BENIGN INFANTILE MITOCHONDRIAL MYOPATHY (BIMM)

Question 1

What is  BENIGN INFANTILE MITOCHONDRIAL MYOPATHY (BIMM)?

Accepted Answer

rare
autosomal recessive
mutation in the MTTE gene
Disorder of nuclear OXPHOS genes improvement spontaneously with 6-9 months
Benign COX deficiency is better described as reversible infantile respiratory chain deficiency [Uusimaa J 2011]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Myopathie, mitochondriale, mit reversiblem Cytochrom-C-Oxidase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 500009

Question 4

Which enzymes are involved?

Accepted Answer

reversible COX deficiency

Disease	BENIGN INFANTILE MITOCHONDRIAL MYOPATHY (BIMM)
Synonym	MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT
OMIM	500009 OMIM = Online Mendelian Inheritance of Men
Orphanet	254864
Gene locus	unknown
ICD	G71.3
Summary	rare autosomal recessive mutation in the MTTE gene Disorder of nuclear OXPHOS genes improvement spontaneously with 6-9 months Benign COX deficiency is better described as reversible infantile respiratory chain deficiency [Uusimaa J 2011]
Laboratory findings	Complex IV activity dec (muscle) Cytochrome c oxidase dec (muscle) L-Lactic acid inc (blood)
Symptoms	areflexia failure to thrive feeding difficulties, poor feeding hepatomegaly (large liver) hyperreflexia hypotonia lactic acidosis muscle weakness onset, neonatal respiratory distress