Phenotypic feature | CMS subtypes |
---|---|
Myopathic | |
 LGMD-type | COLQ, DOK7, MUSK, GFPT1, ALG2, ALG14, DPAGT1 |
 Respiratory insufficiency | SLC18A3, SYB1, COLQ, LAMB2, CHRNB1, CHRND, CHRNE, CHRNG, MUSK, NYO9A, LRP4, COL13A1, SCN4A, RAPS |
 Episodic apnea | CHAT, MUSK, SLC5A7, SLC25A1, RAPSN, COLQ |
 Head drop | AGRN |
 Myopathic EMG | CHRNB1, ALG2, PLEC1, GMPPB |
 Double response | CHRNE, COLQ, SCCMS, ACHE-deficiency, CHRNA1, CHRNB1, CHRND |
Non-myopathic | |
 Cognitive dysfunction | SLC25A7, DPAGT1, SNAP25, COL13A1, MYO9A, CHRNB1, CHRND |
 Facial tics | LAMA5 |
 Cerebral atrophy | SCN4A, ALG14 |
 Agenesis of corpus callosu | SLC25A1 |
 Epilepsy | ALG14, SLC25A1, MUNC13–1 |
 Facial dysmorphism | SYB1, RAPSN, SCN4A, COLQ |
 Myopia | LAMA5 |
 Hypoacusis | SLC25A1, SYT2 |
 Vocal cord paralysis | COLQ, DOK7 |
 Neuropathy | SYT2, SLC25A7 |
 Arthrogryposis multiplex | SLC5A7, CHRNG |
 Contractures | SNAP25, VAMP1, CHRNA1, ALG2, ALG14, RAPSN, CHRND, CHRNG, CHAT |
 Scoliosis | COLQ, CHRNE, VAMP1 |
 Hyperlordosis, hyperkyphosis | SCNA4, RAPSN, SYB1 |
 Adduction deformity of knees | SCN4A |
 Cubitus valgus | PLEC1 |
 Foot deformity | SYT2, RAPSN, CHRNG, SLC25A1, COLQ |
 Hyperlaxity of joints | SYT2, VAMP1, COL13A1 |
 Cutaneous blisters | PLEC1 |
 Pterygia | CHRNG |
 Systolic dysfunction | SLC18A3 |
 Pierson syndrome | LAMB2 |
 Cerebellar ataxia | SNAP25 |
 Laryngospasm | SCN4A |
 Deterioration in cold water | SLC18A3 |
 Hip dysplasia | SYT2 |
 Cryptorchism | CHRNG |
 Arachnodactylia | CHRNG |
 Microcephaly | MUNC13–1 |