Table e-1. Genetic classification of the limb-girdle and distal muscular dystrophies
Disease Inheritance Chromosome Affected protein
X-linked muscular dystrophies
Duchenne/Becker XR Xp21 Dystrophin
EDMD-X1 XR Xq28 Emerin
EDMD-X2/Scapuloperoneal X-linked Xq27.2 FHL1
Limb-girdle muscular dystrophies (LGMDs)
LGMD1A AD 5q22.3-31.3 Myotilin
LGMD1B AD 1q11-21 Lamin A/C
LGMD1C AD 3p25 Caveolin-3
LGMD1D AD 6q23 DNAJB6
LGMD1E AD 2q35 Desmin
LGMD1F* AD 7q32.1-7q32.2 Transportin-3 (TNPO3)
LGMD2A AR 15q15.1-21.1 Calpain-3
LGMD2B AR 2p13 Dysferlin
LGMD2C AR 13q12 γ-Sarcoglycan
LGMD2D AR 17q12-21.3 α-Sarcoglycan
LGMD2E AR 4q12 β-Sarcoglycan
LGMD2F AR 5q33-34 δ-Sarcoglycan
LGMD2G AR 17q11-12 Telethonin
LGMD2H AR 9q31-33 E3-ubiquitin-ligase (TRIM32)
LGMD2I AR 19q13 Fukutin-related protein (FKRP)
LGMD2J AR 2q31 Titin
LGMD2K AR 9q31 POMT1
LGMD2L AR 11p14.3 Anoctamin-5
LGMD2M AR 9q31-33 Fukutin
LGMD2N AR 14q24 POMT2
LGMD2O AR 1p32 POMGNT1
LGMD2P AR 3p21 α-Dystroglycan
LGMD2Q AR 8q24.3 Plectin
LGMD2R* AR 2q35 Desmin
LGMD2S* AR 4q35.1 TRAPPC11
Myofibrillar myopathies
AD 5q22.3-31.3 Myotilin
AD 10q22.3-23.2 ZASP
AD 7q32.1 Filamin C
AD 11q21-23 αB-Crystallin
AD/AR 2q35 Desmin
AR 1p36 Selenoprotein N1
AD 10q25.2-q26.2 BAG3
Hereditary IBM
AR-hIBM AR GNE
hIBM with FTD AD VCP
and Paget disease
hIBM3 AD MYHC-IIA
Distal dystrophies/myopathies
Welander AD 2p13 TIA1
Udd AD 2q31 Titin
Markesbery-Griggs AD 10q22.3-23.2 ZASP
Nonaka AR 9p1-q1 GNE
Miyoshi AR 2p13 Dysferlin
Laing AD 14q11 MYH7
Williams AD 7q32.1 Filamin C
Nebulin myopathy AR 2q21.2-q22 Nebulin
Early-onset distal AD 9p22 Kelch-like 9
myopathy with Kelch-like
homologue 9 mutation
Other dystrophies
EDMD3 AD 6q24 Nesprin-1
EDMD4 AD 14q23 Nesprin-2
EDMD5 AD 3p25.1 LUMA
Scapuloperoneal AD 2q35 Desmin
dystrophy
Muscular dystrophy with AD 17q21.2 Cavin
generalized lipodystrophy
Abbreviations: AD = autosomal dominant; AR = autosomal recessive; EDMD = Emery-Dreifuss muscular dystrophy; FTD = frontotemporal dementia; hIBM = hereditary inclusion body myopathy; XR = X-linked recessive.
*Described after this systematic review was performed and hence not discussed in this guideline.
DISEASE INDEX
DISEASE PAGES
AUTOSOMAL DOMINANT
LGMD1A (myotilin)……………………………………………9, 14, 22, 24, 56, 86, 93, 170, 171
LGMD1B (lamin A/C)…………………………………………….14, 24–26, 86, 89, 93, 169, 170
LGMD1C (caveolin-3)……………………………………………………...14, 27–28, 86, 92, 170
LGMD1D (DNAJB6)…………………………………………………………........28, 86, 93, 170
LGMD1E (desmin)……………………………………………………..14, 23, 29, 56–58, 86, 170
LGMD1F.………………………………………………………………………………………171
AUTOSOMAL RECESSIVE
LGMD2A (calpain-3)……………………………………..15, 29–31, 75, 76, 87, 93, 94, 105, 170
LGMD2B/Miyoshi myopathy
(dysferlin)……………………………...10, 15, 31–33, 67, 75, 76, 87, 91, 92, 93, 94, 96, 105, 170
LGMD2C (γ-sarcoglycan)………………………………...16, 33–34, 74, 75, 76, 88, 93, 105, 170
LGMD2D (α-sarcoglycan)……………………………...9, 16, 34–35, 74, 75, 76, 88, 93, 105, 170
LGMD2E (β-sarcoglycan)…………………………………….16–17, 35–36, 75, 76, 88, 105, 170
LGMD2F (δ-sarcoglycan)………………………………………..................17, 36–37, 88, 93, 170
LGMD2G (telethonin)……………………………………………………………...17, 37, 93, 170
LGMD2H/TRIM32/Sarcotubular myopathy……………………………………37–38, 88, 93, 171
LGMD2I/Fukutin-related protein (FKRP)………...17–18, 38–40, 75, 76, 80, 88, 93, 96, 105, 171
LGMD2J/Udd distal myopathy/Hereditary myopathy with early respiratory failure (titin)……………………………………………………………18, 30, 40–43, 62, 67, 92, 93, 171
LGMD2K (protein-O-mannosyltransferase 1 or POMT1)……………........18, 43, 83, 88, 93, 171
LGMD2L (anoctamin-5)………………………..18–19, 44–45, 67, 87, 91, 92, 93, 94, 96, 97, 171
LGMD2M (fukutin)…………………………………………………….19, 45–46, 83, 88, 93, 171
LGMD2N (protein-O-mannosyltransferase 2 or POMT2)…………………19, 46, 83, 88, 93, 171
LGMD2O (protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase or POMGNT1)……………………………………………………………..19, 46–47, 83, 88, 93, 171
LGMD2P (α-dystroglycan)…………………………………………………47–48, 83, 88, 93, 171
LGMD2Q (epidermolysis bullosa with muscular dystrophy [plectin-1]).….48–49, 72–73, 88, 171
LGMD2R……………………………………………………………………………………….171
LGMD2S……………………………………………………………………………………….171
X-LINKED RECESSIVE
Becker muscular dystrophy
(dystrophin) ……………..10, 19–21, 49–50, 51, 75, 76, 77, 78, 80, 81, 89, 93, 97, 105, 106, 170
Females manifesting with dystrophinopathy……………………….10, 20–21, 51, 89, 92, 93, 170
X-linked Emery-Dreifuss muscular dystrophy/EDMD-X1 (emerin)…..21, 52–54, 89, 92, 93, 170
EDMD-X2/Scapuloperoneal myopathy (four-and-one-half LIM1 protein or FHL1)……...54, 170
MYOFIBRILLAR MYOPATHIES
Myotilin (LGMD1A)…………………………………………...9, 14, 22, 24, 56, 86, 93, 170, 171
Desmin (LGMD1E)……………………………………………….14, 23, 29, 56–58, 86, 170, 171
αB-Crystallin………………………………………………………………………..23, 58, 86, 171
Z-band alternatively spliced PDZ motif-containing protein (ZASP) (Markesbery-Griggs distal myopathy)……………………………………………………………..23, 58–59, 67, 86, 171, 172
BCL2-associated athanogene 3 (BAG3)..…………………………………………..23, 59–60, 171
Filamin C (Williams distal myopathy)………………………………..23, 60–62, 69, 86, 171, 172
HEREDITARY INCLUSION BODY MYOPATHIES
Autosomal recessive hIBM/Nonaka distal myopathy (GNE)…………..23–24, 62–63, 67, 91, 172
Autosomal dominant hIBM with Paget disease and frontotemporal dementia (valosin-containing protein or VCP)…………………………………………………………………63–64, 83, 86, 172
Fast myosin heavy chain, MYHC-IIA, IBM3………………………………………….64–65, 172
DISTAL MUSCULAR DYSTROPHIES/MYOPATHIES
Welander distal myopathy………………………………………………….66–67, 78–79, 90, 172
Markesbery-Griggs distal muscular dystrophy……………………………23, 58–59, 67, 171, 172
Udd distal muscular dystrophy………………………………………..40, 42, 43, 62, 67, 171, 172
Miyoshi distal myopathy…………………………………………………………..10, 67 170, 172
Nonaka distal myopathy……………………………………………………………62–63, 67, 172
Laing myopathy/MYH7…………………………………………………………………67–69, 172
Vocal cord and pharyngeal weakness with distal myopathy (matrin-3)…………………………69
Filamin C (Williams distal myopathy)………………………………..23, 60–62, 69, 86, 171, 172
Nebulin (NEB)………………………………………………………………………….69–70, 172
Distal myopathy with Kelch-like homologue 9 mutations (KLHL9)…………………...70–71, 172
OTHER DISORDERS
Selenoprotein (SEPN1, rigid spine syndrome)………………………………………... 71–72, 171
Muscular dystrophy with generalized lipodystrophy (cavin-1/polymerase I and transcript release factor [PTRF])…………………………………………………………………………..72–73, 173
Appendix e-1: Mission statement of GDS
The mission of the GDS is to prioritize, develop, and publish evidence-based guidelines related to the diagnosis, treatment, and prognosis of neurological disorders.
The GDS is committed to using the most rigorous methods available within our budget, in collaboration with other available AAN resources, to most efficiently accomplish this mission.
Appendix e-2: 2013–2015 Guideline Development Subcommittee (GDS) members
Cynthia Harden, MD (Chair); Steven R. Messé, MD, FAAN (Vice-Chair); Richard L. Barbano, MD, PhD, FAAN; Jane Chan, MD, FAAN; Diane Donley, MD; Terry Fife, MD, FAAN; Jeffrey Fletcher, MD; Michael Haboubi, MD; John J. Halperin, MD, FAAN; Cheryl Jaigobin, MD; Andres M. Kanner, MD; Jason Lazarou, MD; David Michelson, MD; Pushpa Narayanaswami, MD, MBBS; Maryam Oskoui, MD; Tamara Pringsheim, MD; Alexander Rae-Grant, MD; Kevin Sheth, MD, FAHA; Kelly Sullivan, PhD; Theresa A. Zesiewicz, MD, FAAN; Jonathan P. Hosey, MD, FAAN (Ex-Officio); Stephen Ashwal, MD, FAAN (Ex-Officio); Deborah Hirtz, MD, FAAN (Ex-Officio); Jacqueline French, MD, FAAN (Ex-Officio)
Appendix e-3: AANEM Practice Issues Review Panel (PIRP) members
Yuen T. So, MD, PhD (Co-Chair); Williams S. David, MD, PhD (Co-Chair); Paul E. Barkhaus, MD; Earl J. Craig, MD; Prabhu D. Emmady, MD; Kenneth J. Gaines, MD; James F. Howard, MD; Atul T. Patel, MD; Bharathi Swaminathan, MD; Darrell T. Thomas, MD; Gil I. Wolfe, MD
Appendix e-4: Complete search strategy
Ovid Medline
1950 to December Week 3 2010 # Searches Results Search Type 1
muscular dystrophies/ and (lbmd* or (limb adj girdle) or distal or becker or emery or dreifuss or markesberry or griggs or udd or minoka or myoshi or laing or williams or welander).mp. [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 1974 Advanced 2
muscular dystrophy, limb girdle/ or ((muscle diseases/ or myopath*.mp.) and distal.mp.) [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 1080 Advanced 3
1 or 2 2829 Advanced 4
exp muscular dystrophies/ 18431 Advanced
5
laminin*.mp. or lmna protein, human/ or myot protein, human.mp. or calpain.mp. or calpainopath*.mp. or capn3 protein, human/ or dysferlin*.mp. or dysf, protein, human/ [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 24315 Advanced
6 exp dystrophin associated proteins/ or sarcoglycan*.mp. or dystroglycans*.mp. or telethonin.mp. or tcap protein, human.mp. [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 1781 Advanced
7 (trim32* or fukutin*).mp. or fkrp protein, human/ or titin.mp. or tcap protein, human.mp. or tcap*.mp. or pomt*.mp. or ano5*.mp. or anoctamin.mp. or pomgnt*.mp. or desmin.mp. or alpha-crystallin b chain.mp. or ldb3 protein, human.mp. or zasp.mp. [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 8612 Advanced
8 (bag3* or filamin or fhli protein, human or emerin or emd protein, human or resprin* or myosin heavy chain or myhct or nvl protein, human or matrin 3 or cavin).mp. [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 7771 Advanced
9 4 and (5 or 6 or 7 or 8) 1638 Advanced
10 exp muscular dystrophies/ep, ge, cl, bl, pa 10239 Advanced 11
3 and 10 1903 Advanced
12 3 and (exp molecular diagnostic techniques/ or genetic testing.mp. or exp genetic techniques/) [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 1205 Advanced
13 3 and (exp polymerase chain reaction/ or heterozygote detection/ or exp nucleic amplification techniques/ or exp dna probes/ or ("x" adj linked).mp.) [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 617 Advanced
14 9 or 10 or 12 or 13 10712 Advanced
15 14 not case reports/ 8685 Advanced
16 ..l/ 15 hu=y and yr=1987-2010 5546 Advanced
17 Muscular Dystrophy, Facioscapulohumeral/ 326 Advanced
18 16 not (17 or fascioscap*.mp.) [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 5364 Advanced
19 3 and 18 1373 Advanced
20 1 or 2 or (exp *muscular dystrophies/ and 14) 10114 Advanced
21 ..l/ 20 hu=y and yr=1987-2010 6839 Advanced
22 21 and (creatine kinase/an, bl, du or exp muscles/pa, pp or biops*.mp. or exp imaging, diagnostic/ or physical examination/) [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 2727 Advanced
23 [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 690821 Advanced
24 exp Cardiovascular Physiological Processes/ 416537 Advanced
25 21 and (23 or 24) 409 Advanced
26 muscle weakness or winging*).mp. or ambulation/ or quality of life/ or activities of daily living/ or muscular atrophy/ or exp muscles/pa, pp or exp physical therapy modalities/ or muscle strength.mp. or hand strength/ or hand grip/ or grip strenth.mp. or exercise*.mp. or physical endurance/ [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 502739 Advanced
27 21 and 26 2122 Advanced
28 exp Scoliosis/ or exp Braces/ 14674 Advanced
29 (absorptiometry, photon or densitometry*).mp. or bone density/ or exp bone resorption/ or exp bone disease, metabolic/ [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 109052 Advanced
30 21 and (28 or 29) 44 Advanced
31 exp respiratory insufficiency/ or exp respiratory function tests/ or swallow*.mp. or dysphagia.mp. or exp vocal disorders/ or polysomnography/ or exp respiration, artificial/ or tracheostomy/ or capnography.mp. or hypercapnia.mp. [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 281320 Advanced
32 exp Complementary Therapies/ 142979 Advanced
33 exp Gene Therapy/ 31909 Advanced
34 21 and (31 or 32 or 33) 467 Advanced
35 22 or 25 or 27 or 30 or 34 3421 Advanced
36 limit 35 to (clinical trial, all or clinical trial, phase i or clinical trial, phase ii or clinical trial, phase iii or clinical trial, phase iv or clinical trial or comparative study or controlled clinical trial or meta analysis or multicenter study or practice guideline or randomized controlled trial) 348 Advanced
37 35 and ((cohort* or observation* or population* or retrospective* or prospective*).mp. or review.pt. or (case adj series).mp. or (case adj controlled).mp.) [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 863 Advanced
38 36 or 37 1134 Advanced
39 limit 38 to yr="1987 - 2012" 266 Advanced
PubMed
(LGMD* OR “limb girdle muscular dystrophy” OR distal myopathies[mesh] OR “distal muscular dystrophy” OR “Becker muscular dystrophy” OR “Emery Dreifuss muscular dystrophy” OR “inclusion body myositis” OR “inclusion body myopathy” OR muscular dystrophy, limb girdle[mesh] OR muscular diseases[mesh:noexp] OR muscle weakness[mesh] OR muscular dystrophies[mesh:noexp]) AND (genetics[sh] OR sarcotubular OR dnajb6 OR kelch OR myotilin OR “lamin a/c” OR “caveolin-3” OR “calpain-3” OR dysferlin OR sarcoglycan OR telethonin OR TRIM32 OR FKRP OR Titin OR “o-mannosyltransferase-1” OR POMT* OR fukutin OR anoctamin OR ANO5 OR “o-mannose- beta 1,2-N-Acetylglucosaminyl transferase” OR POMTGnT1 OR “O-mannosyltransferase-2” OR POMT OR desmin OR “Alpha b Crystallin” OR ZASP OR “Bag-3” OR filamin* OR FHL1* OR fhl OR lim domain proteins[mesh] OR emerin OR nesprin OR “Markesbery-Griggs” OR Udd OR Nonaka OR Miyoshi OR Laing OR Williams OR Welander OR “myosin heavy chain” OR “MyHC 7” OR VCP OR “Valosin containing protein” OR “Matrin 3” OR GNE OR epimerase OR Cavin OR selenoprotein OR SEPN1 OR VCPDM OR nebulin OR ”rigid spine” OR dystroglycan OR “transmembrane protein 43” OR tmem* OR LUMA) NOT muscular dystrophy, duchenne[majr]
Cochrane, Embase, Web of Science
Ovid MEDLINE(R) In-Process & Other Non-Indexed Citations and Ovid MEDLINE(R) 1946 to Present # Searches Results Search Type
1 (lgmd* or "limb girdle muscular dystrophy").mp. or exp distal myopathies/ or "distal muscular dystrophy".mp. or "becker muscular dystrophy".mp. or "emery dreifuss muscular dystrophy".mp. or "inclusion body myositis".mp. or "inclusion body myopathy".mp. or exp muscular dystrophy, limb girdle/ or muscule weakness/ or muscular dystrophy/ or muscular dystrophies/ [mp=title, abstract, original title, name of substance word, subject heading word, protocol supplementary concept, rare disease supplementary concept, unique identifier] 15307 Advanced
2 1 and ge.fs. 6968 Advanced
3 1 and (sarcotubular or dnajb6 or kelch or myotilin or "lamin a/c" or "caveolin-3" or "calpain-3").mp. [mp=title, abstract, original title, name of substance word, subject heading word, protocol supplementary concept, rare disease supplementary concept, unique identifier] 498 Advanced
4 1 and (dysferlin or sarcoglycan or telethonin or trim32 or fkrp or titin or "o-mannosyltransferase-1" or pomt* or fukutin or anoctamin or ano5 or "o-mannose-beta1,2-nacetylglucosaminyltransferase" or pomtgnt1).mp. [mp=title, abstract, original title, name of substance word, subject heading word, protocol supplementary concept, rare disease supplementary concept, unique identifier] 921 Advanced
5 1 and ((desmin or "alpha b crystallin" or zasp or "bag-3" or filamin* of fhl1* or fhl).mp. or exp lim domain proteins/) [mp=title, abstract, original title, name of substance word, subject heading word, protocol supplementary concept, rare disease supplementary concept, unique identifier] 129 Advanced
6 1 and (emerin or nesprin or "markesbery griggs" or udd or nonaka or miyoshi or laing or williams or welander or "myosin heavy chain" or myhc7 or myhc or vcp or "valosin containing protein" or "matrin 3" or gne or epimerase or cavin or selenoprotein* or sepn1 or vcpdm or nebulin or "rigid spine" or dystroglycan or "transmembrane protein 43" or tmem* or luma).mp. [mp=title, abstract, original title, name of substance word, subject heading word, protocol supplementary concept, rare disease supplementary concept, unique identifier] 1182 Advanced
7 2 or 3 or 4 or 5 or 6 7393 Advanced
8 7 not *muscular dystrophy, duchenne/ 7167 Advanced
9 exp molecular diagnostic techniques/ or "genetic testing".mp. or exp genetic techniques/ or exp polymerase chain reaction/ or heterozygote detection/ or exp nucleic amplications techniques/ or exp dna probes/ or ("x" adj linked).mp. [mp=title, abstract, original title, name of substance word, subject heading word, protocol supplementary concept, rare disease supplementary concept, unique identifier] 1418455 Advanced
10 1 and 9 4060 Advanced
11 7 or 10 7702 Advanced
12 11 not *muscular dystrophy, duchenne/ 7466 Advanced
13 12 not (muscular dystrophy, fascioscapulohumeral/ or fascioscap*.mp.) [mp=title, abstract, original title, name of substance word, subject heading word, protocol supplementary concept, rare disease supplementary concept, unique identifier] 7461 Advanced
14 limit 13 to (english language and humans and yr="1987 - 2012") 4567 Advanced
15 14 and (creatine kinase/an, bl, du or exp muscles/pa, pp or biops*.mp. or exp imaging, diagnostic/ or physical examination/) [mp=title, abstract, original title, name of substance word, subject heading word, protocol supplementary concept, rare disease supplementary concept, unique identifier] 1833 Advanced
16 exp heart diseases/di, pa, ep, mo, pp, co or exp heart function tests/ or exp electrocardiography/ or exp echocardiography/ or exp assisted circulation/ or pacemaker, artificial/ or cardiac pacing, artificial.mp. or exp heart transplantation/ 750885 Advanced
17 exp cardiovascular physiological processes/ 446803 Advanced
18 14 and (16 or 17) 211 Advanced
19 (muscle weakness or winging*).mp. or ambulation/ or quality of life/ or activities of daily living/ or muscular atrophy/ or exp muscles/pa, pp or exp physical therapy modalities/ or muscle strength/ or hand strength/ or hand grip/ or "grip strength".mp. or exercise*.mp. or physical endurance/ [mp=title, abstract, original title, name of substance word, subject heading word, protocol supplementary concept, rare disease supplementary concept, unique identifier] 572576 Advanced
20 14 and 19 1405 Advanced
21 exp scoliosis/ or exp braces/ or bone density/ or exp bone resorption/ or absorptiometry, photon/ or densitomet*.mp. or exp bone diseases, metabolic/ [mp=title, abstract, original title, name of substance word, subject heading word, protocol supplementary concept, rare disease supplementary concept, unique identifier] 140311 Advanced
22 14 and 21 40 Advanced
23 exp respiratory insufficiency/ or exp respiratory function tests/ or swallow*.mp. or dysphagia.mp. or exp vocal disorders/ or polysomnography/ or exp respiration, artificial/ or tracheostomy/ or capnography.mp. or hypercapn*.mp. or exp deglutition disorders/ [mp=title, abstract, original title, name of substance word, subject heading word, protocol supplementary concept, rare disease supplementary concept, unique identifier] 332065 Advanced
24 14 and 23 83 Advanced
25 14 and (exp complementary therapies/ or exp gene therapy/) 185 Advanced
26 15 or 18 or 20 or 22 or 24 or 25 2235 Advanced
Updated Ovid Medline
1950 to December Week 3 2010 # Searches Results Search Type 1
muscular dystrophies/ and (lbmd* or (limb adj girdle) or distal or becker or emery or dreifuss or markesberry or griggs or udd or minoka or myoshi or laing or williams or welander).mp. [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 1974 Advanced 2
muscular dystrophy, limb girdle/ or ((muscle diseases/ or myopath*.mp.) and distal.mp.) [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 1080 Advanced 3
1 or 2 2829 Advanced 4
exp muscular dystrophies/ 18431 Advanced 5
laminin*.mp. or lmna protein, human/ or myot protein, human.mp. or calpain.mp. or calpainopath*.mp. or capn3 protein, human/ or dysferlin*.mp. or dysf, protein, human/ [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 24315 Advanced 6
exp dystrophin associated proteins/ or sarcoglycan*.mp. or dystroglycans*.mp. or telethonin.mp. or tcap protein, human.mp. [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 1781 Advanced 7
(trim32* or fukutin*).mp. or fkrp protein, human/ or titin.mp. or tcap protein, human.mp. or tcap*.mp. or pomt*.mp. or ano5*.mp. or anoctamin.mp. or pomgnt*.mp. or desmin.mp. or alpha-crystallin b chain.mp. or ldb3 protein, human.mp. or zasp.mp. [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 8612 Advanced 8
(bag3* or filamin or fhli protein, human or emerin or emd protein, human or resprin* or myosin heavy chain or myhct or nvl protein, human or matrin 3 or cavin).mp. [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 7771 Advanced 9
4 and (5 or 6 or 7 or 8) 1638 Advanced 10
exp muscular dystrophies/ep, ge, cl, bl, pa 10239 Advanced 11
3 and 10 1903 Advanced 12
3 and (exp molecular diagnostic techniques/ or genetic testing.mp. or exp genetic techniques/) [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 1205 Advanced 13
3 and (exp polymerase chain reaction/ or heterozygote detection/ or exp nucleic amplification techniques/ or exp dna probes/ or ("x" adj linked).mp.) [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 617 Advanced 14
9 or 10 or 12 or 13 10712 Advanced 15
14 not case reports/ 8685 Advanced 16
..l/ 15 hu=y and yr=1987-2010 5546 Advanced 17
Muscular Dystrophy, Facioscapulohumeral/ 326 Advanced 18
16 not (17 or fascioscap*.mp.) [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 5364 Advanced 19
3 and 18 1373 Advanced 20
1 or 2 or (exp *muscular dystrophies/ and 14) 10114 Advanced 21
..l/ 20 hu=y and yr=1987-2010 6839 Advanced 22
21 and (creatine kinase/an, bl, du or exp muscles/pa, pp or biops*.mp. or exp imaging, diagnostic/ or physical examination/) [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 2727 Advanced 23
exp heart diseases/di, pa, ep, mo, pp, co or exp heart function tests/ or exp electrocardiography/ or exp echocardiography/ or exp assisted circulation/ or pacemaker, artificial/ or cardiac pacing, artificial.mp. or exp heart transplantation/ [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 690821 Advanced 24
exp Cardiovascular Physiological Processes/ 416537 Advanced 25
21 and (23 or 24) 409 Advanced 26
(muscle weakness or winging*).mp. or ambulation/ or quality of life/ or activities of daily living/ or muscular atrophy/ or exp muscles/pa, pp or exp physical therapy modalities/ or muscle strength.mp. or hand strength/ or hand grip/ or grip strenth.mp. or exercise*.mp. or physical endurance/ [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 502739 Advanced 27
21 and 26 2122 Advanced 28
exp Scoliosis/ or exp Braces/ 14674 Advanced 29
(absorptiometry, photon or densitometry*).mp. or bone density/ or exp bone resorption/ or exp bone disease, metabolic/ [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 109052 Advanced 30
21 and (28 or 29) 44 Advanced 31
exp respiratory insufficiency/ or exp respiratory function tests/ or swallow*.mp. or dysphagia.mp. or exp vocal disorders/ or polysomnography/ or exp respiration, artificial/ or tracheostomy/ or capnography.mp. or hypercapnia.mp. [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 281320 Advanced 32
exp Complementary Therapies/ 142979 Advanced 33
exp Gene Therapy/ 31909 Advanced 34
21 and (31 or 32 or 33) 467 Advanced 35
22 or 25 or 27 or 30 or 34 3421 Advanced 36
limit 35 to (clinical trial, all or clinical trial, phase i or clinical trial, phase ii or clinical trial, phase iii or clinical trial, phase iv or clinical trial or comparative study or controlled clinical trial or meta analysis or multicenter study or practice guideline or randomized controlled trial) 348 Advanced 37
35 and ((cohort* or observation* or population* or retrospective* or prospective*).mp. or review.pt. or (case adj series).mp. or (case adj controlled).mp.) [mp=title, original title, abstract, name of substance word, subject heading word, unique identifier] 863 Advanced 38
36 or 37 1134 Advanced 39
limit 38 to yr="1987 - 1995" 266 Advanced
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