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GENATLAS PHENOTYPE

last update : 06-04-2021

Symbol	MPD5
Location	14q32.33
Name	myopathy, distal, 5
Corresponding gene	ADSS1
Main clinical features	adolescent onset, predominant distal muscle weakness, and atrophy predominantly affecting the lower limbs, facial muscle weakness, rimmed vacuoles, and mild elevation of serum creatine kinase
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Remark(s)

. D304N and I350fs mutations in ADSS1 led to decreased enzymatic activity (PMID: 26506222))