MITOCHONDRIAL MYOPATHY WITH DIABETES

Question 1

What is  MITOCHONDRIAL MYOPATHY WITH DIABETES?

Accepted Answer

rare
mitochondrial inheritance
mutation in the mitochondrially-encoded tRNA-glu gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Myopathie - Diabetes mellitus

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 500002

Disease	MITOCHONDRIAL MYOPATHY WITH DIABETES
Synonym	MITOCHONDRIAL MYOPATHY, LIPID TYPE
OMIM	500002 OMIM = Online Mendelian Inheritance of Men
Orphanet	2596
ExPASy	---
Gene locus	---
ICD	G71.3
Summary	rare mitochondrial inheritance mutation in the mitochondrially-encoded tRNA-glu gene
Laboratory findings	Creatine kinase inc (serum) D-Glucose inc (plasma)
Symptoms	ataxia diabetes mellitus hyperglycemia hypotonia muscle weakness myopathy neuropathy ophthalmoplegia dysarthria Electron microscopy [-] EMG abnormalities [-] hyporeflexia intellectual disability/intellectual developmental disorder motor retardation onset, adolescent onset, variable age