BENIGN INFANTILE MITOCHONDRIAL MYOPATHY AND CARDIOMYOPATHY (BIMC)

Question 1

What is  BENIGN INFANTILE MITOCHONDRIAL MYOPATHY AND CARDIOMYOPATHY (BIMC)?

Accepted Answer

rare
autosomal recessive
more severe variant of BIMM (OMIM 500009)?

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Myopathie, mitochondriale, infantil

Question 3

Which enzymes are involved?

Accepted Answer

OXPHOS defect

Disease	BENIGN INFANTILE MITOCHONDRIAL MYOPATHY AND CARDIOMYOPATHY (BIMC)
Orphanet	---
Gene locus	unknown
ICD
Summary	rare autosomal recessive more severe variant of BIMM (OMIM 500009)?
Laboratory findings	Complex I activity dec (muscle) L-Lactic acid inc (blood)
Symptoms	cardiomyopathy early death hypotonia lactic acidosis metabolic acidosis muscle weakness onset, neonatal respiratory distress