Electrophysiology extends the phenotypic spectrum of X-linked myopathy with excessive autophagy.
Munteanu
I
I
Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Ackerley
C A
CA
Mnatzakanian
G N
GN
Kissel
J T
JT
Minassian
B A
BA
D000328:Adult; D001343:Autophagy / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D018450:Disease Progression; D004576:Electromyography; D004594:Electrophysiology; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology*; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D019683:Penetrance; D010641:Phenotype; D011237:Predictive Value of Tests; D012508:Sarcolemma / Q000235:genetics / Q000378:metabolism; D013577:Syndrome