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Limb Girdle Dystrophies Dominant (LGMDD) 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 |
Limb Girdle Dystrophies Recessive (LGMDR) 1 (2A): Calpain-3; 15q15 2 (2B): Dysferlin; 2p13 3 (2D): α-Sarcoglycan; 17q21 4 (2E): β-Sarcoglycan; 4q12 5 (2C): γ-Sarcoglycan; 13q12 6 (2F): δ-Sarcoglycan; 5q33 7 (2G): Telethonin; 17q12 8 (2H): TRIM32; 9q33 9 (2I; MDDGC5): FKRP; 19q13 10 (2J): Titin; 2q24 11 (2K; MDDGC1): POMT1; 9q34 12 (2L): ANO5; 11p14 13 (2M; MDDGC4): Fukutin; 9q31 14 (2N;MDDGC2): POMT2; 14q24 15 (2O; MDDGC3): POMGnT1; 1p32 16 (2P; MDDGC9): DAG1; 3p21 17 (2Q): Plectin 1f; 8q24 18 (2S): TRAPPC11; 4q35 19 (2T): GMPPB; 3p21 20 (2U): ISPD; 7p21 21 (2Z): POGLUT1; 3q13 22: COL6A2; 21q22 23: LAMA2; 6q22 24: POMGNT2; 3p22 25: POPDC1; 6q21 26: POPDC3; 6q21 27: JAG2; 14q32 Other Pompe (2V): GAA; 17q25 2W: LIMS2; 2q14 2Y: TOR1AIP1; 1q25 Caveolin-3 MDDGC12: POMK; 8p11 Merosin (Laminin α2) 23 (Absent): 6q22 Reduced Abnormal: LGMD 2I MFM (2R): Desmin; 2q35 PYROXD1: 12p12 Myopathy + Cardiomyopathy Arrhythmia: POPDC1; 6q21 Dilated: DPM3; 1q12 Hypertrophic: TRIM63; 1p36 Digenic: + Murf3 heterozygous Triangle tongue (2W): LIMS2; 2q14 Contractures: TOR1AIP1; 1q25 Epilepsy: DPM2; 9q34 Infant stiffness: CRYAB; 11q22 Lipodystrophy: PTRF; 17q21 MR & Eye (2T): GMPPB; 3p21 Ophthalmoplegia: MYH2; 17p13 Short stature & Ptosis: RAB3GAP2 |
Limb Girdle 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 LGMD: General features Muscle pathology Muscle proteins Connective tissue Dystrophin & associated proteins Intermediate filaments Neuromuscular junction Nuclear envelope Structural & Contractile ![]() |
Other inherited myopathy syndromes
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Inheritance Myopathy: General features Presenting features Prevalence Proteins: Subcellular location Sarcoglycans Weakness |
![]() From Bramwell: Atlas of Clinical Medicine MD: Toe walking
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Caveolin protein LGMD 1C Allelic disorders Clinical Genetics Laboratory Mouse models |
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Caveolin-3: Located on muscle fiber sarcolemma |
Recessive Genetics Calpain-3 protein Clinical Laboratory Muscle pathology Dominant |
![]() From: C Angelini MD |
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Gene Protein Clinical Laboratory Pathology Variant syndromes Mouse models
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![]() From: C Angelini |
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![]() Telethonin in muscle fibers |
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![]() FKRP: Homozygous Leu276Ileu
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MFM: Hereditary types Congenital Cap TPM2: 9p13 TPM3: 1q22 ACTA1: 1q42 MD: SEPN1; 1p36 MD + JEB: Plectin; 8q24 Myopathy: CCDC78; 16p13 Childhood MFM 1 (LGMD 1E): Desmin; 2q35 2: αB-crystallin; 11q22 3 (LGMD 1A): Myotilin; 5q31 4: ZASP; 10q23 5: Filamin C; 7q32 6: BAG3; 10q25 7: KY; 3q22; Recessive 8: PYROXD1; 12p12 9: Titin; 2q31 10: SVIL; 10p11; Recessive 11: UNC45B; 17q12 12: MYL2; 12q24 MFM: ACTA1; 1q42 Other Distal myopathy: HSPB8; 12q24 DMRV: SQSTM1 + TIA1 LGMD 1B; LMNA; 1q21 1D: DNAJB6; 7q36 2Q: Plectin; 8q24 Polyglugosan body: RBCK1; 20p13 PYGM, Dominant: 11q13 Rod myopathy: NEB; 2q23 Respiratory Δ: 2q21 Respiratory + Rigid spine: DNAJB4; 1p31 Restrictive cardiomyopathy Scapuloperoneal: FHL-1; Xq26 |
MFM Clinical features Pathological features Also see Contractures + Weakness: KY; 3q22 Desmin knock-out mouse Inclusion body myositis Intermediate filament disorders ![]() ![]() |
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![]() From HPRD αB-crystallin
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General features Proteins & Mutations |
Severe limb-girdle: ? Recessive Mild limb-girdle: Dominant Desmin myopathies Myopathy + Respiratory weakness Type 1: Titin; 2q31; Dominant Type 2: 2q21; Dominant Distal: Dominant Gowers-Laing: MYH7; 14q12 Plectin deficiency Congenital ACTA1: 1q42 Pathology Cytoplasmic bodies |
![]() Gomori trichrome |
![]() Phalloidin |
General features Pathology Syndromes Myopathy, Proximal TAM1: STIM1; 11p15; Dominant TAM2: ORAI1; 12q24; Dominant TAM (VMCQA): CASQ1; 1q23; Dominant Myasthenic disorders Limb Girdle MG 1: GFPT1; 2p13; Recessive Limb Girdle MG 2: DPAGT1; 11q23; Recessive CMS 14: ALG2; 9q22 Slow channel MG: AChR mutations CMG, Recessive: SYT2; 1q32 Rhabdomyolysis & Cramps PGAM2; 7p13; Recessive Neuromuscular, Other Gyrate atrophy: OAT; 10q26; Recessive Periodic paralysis Hypokalemic Andersen Paramyotonia congentia: Some patients Occasional: Differential Diagnosis |
![]() Gomori trichrome |