(Reference: Washington University St Louis)
Limb Girdle Muscular Dystrophies: Dominant
(LGMD1A-1H)
1: DNAJB6; 7q36
2: TNPO3; 7q32
3: HNRPDL; 4q21
4: Calpain-3; 15q15
5 (Bethlem 1)
COL6A1: 21q22
COL6A2: 21q22
COL6A3: 2q37
Previous classification
Myopathies, Dominant
1H: 3p23
Ankle contractures & High CK
Bethlem 2: COL12A1; 6q13
Central core: RYR1; 19q13
Cytoplasmic body
Distal myopathies
MPD2: MATR3; 5q31
Emery-Dreifuss
Lamin A/C; 1q21
SYNE1; 6q25
SYNE2; 14q23
Facioscapulohumeral
1A: DUX4; 4q35
1B: DUX4; 10qter
2: SMCHD1; 18p11
Myofibrillar (Desmin storage)
Myoglobinopathy: MB; 22q12
Myosin storage: MYH7; 14q11
Myotonic (DM1): DMPK; 19q13
Myotonic (DM2): ZNF9; 3q21
Oculopharyngeal: PABP2; 14q11
Tremor: MYBPC1; 12q23
α-Dystroglycan disorders (MDDGC)
Aggregates
Cytoplasmic body
Hyaline body: MYH7; 14q11; Dominant
Myofibrillar (Desmin)
Reducing body
Spheroid body (Myotilin)
Tubular
Tubular arrays
VMCQA: CASQ1; 1q23; Dominant
Autophagy
Excessive: VMA21; Xq28
Multisystem: CLN3; 16p11; Recessive
Other
Barnes myopathy: Dominant
Cardiac + Myopathy
Cardiomyopathy-associated
Cardiomyopathy (? LGMD1B)
LGMD 1E: Desmin; 2q35; Dominant
Congenital
Myopathies: Late-onset
Muscular dystrophies (MDDG)
Distal myopathies
FSH dystrophy: Dominant
FSHD1: D4Z4 deletion; 4q35
FSHD2: SMCHD1; 18p11 & 4q35
Glycogenoses
Glycosylation
Hearing loss & Ovarian Failure: GGPS1
Inclusion Body (IBM)
HMERF: TTN; 2q31; Dominant
IBM1: Desmin; 2q35; Dominant
IBM3: MYH2; 17p13; Dominant
IBM4: 7q22; Dominant
LGMD 1D: DNAJB6; 7q36; Dominant
IBM + Paget
Lipid
Mitochondrial
Myasthenia gravis, Familial
Myotonic dystrophy
Other dystrophies
Respiratory failure
Scapuloperoneal syndromes
Skeletal + Myopathy: Dominant
Bone fragility: MTAP; 9p21
Paget (VCP; HNRNPA2B1; HNRNPA1)
Dysplasia
Diaphyseal: TGFB1; 19q13
Epiphyseal (COL9A3; COL9A2; COMP)
Strongman: DCST2; 1q22; Dominant
Limb Girdle Muscular Dystrophies: X-linked
Barth: G4.5 (Tafazzins); Xp28
Becker: Dystrophin; Xp21
Duchenne: Dystrophin; Xp21
Emery-Dreifuss
Emerin; Xq28
FHL1: Xq26
Manifesting carriers
Dystrophinopathy
Myotubularin
McLeod Syndrome: XK; Xp21.1;
Vacuolar
Danon’s disease: LAMP-2; Xq24
Excess Autophagy: VMA21; Xq28
MR & Cardiac: LAMP-2; Xq24