Visit Metagene.de!
Summary
MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (MEOAL)
251900
OMIM = Online Medalian Inheritance of Men
---
19p13.2
very rare
autosomal recessive
mutation in the FDX2 gene
symptoms
anemia
defect of walking, running, rising or climbing
exercise intolerance
hypothyroidism
lactic acidosis
learning disability
leukoencephalopathy
muscle cramps
muscle weakness
neuropathy
nystagmus
onset, childhood
onset, infancy
optic atrophy
pain, muscle
peripheral neuropathy
ptosis (drooping eyelid)
rhabdomyolysis
laboratory finding
3-Methylglutaconic acid mmol/mol Creaurine
L-Lactic acid mmol/mol Creaurine
L-Lactic acid mmol/lplasma
Myoglobin mmol/mol creatinineurine
Creatine kinase U/lserum
Literature
Karpinski BA,et al.Dysphagia and disrupted cranial nerve development in a mouse model of DiGeorge (22q11) deletion syndromeDis Model Mech72245-2572014
Wang X,et al.Altered neurobiological function of brainstem hypoglossal neurons in DiGeorge/22q11.2 Deletion SyndromeNeuroscience35901-72017