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Summary
MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (HML)
ISCU MYOPATHY MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE
255125
OMIM = Online Medalian Inheritance of Men
43115
12q23.3
rare
autosomal recessive
mutation in the ISCU gene
symptoms
cardiomyopathy
dyspnea
exercise intolerance
lactic acidosis
muscle cramps
muscle weakness
myopathy
onset, childhood
pain, muscle
rhabdomyolysis
laboratory finding
Myoglobin increasedurine
L-Lactic acid increasedserum
Pyruvic acid increasedserum
Literature
Rak M,et al.Mitochondrial cytochrome c oxidase deficiencyClin Sci (Lond)1306393-4072016
Takeda R,et al.A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamideClin Pediatr Endocrinol244191-1932015
Hoffmann A,Spengler DRole of ZAC1 in transient neonatal diabetes mellitus and glucose metabolismWorld J Biol Chem6395-1092015
Martins L,et al.Transient neonatal diabetes due to a missense mutation (E227K) in the gene encoding the ATP-sensitive potassium channel (KCNJ11)Clin Case Rep310781-7852015
Khromykh A,et al.Diagnosis of D-Bifunctional Protein Deficiency through Whole-Genome Sequencing: Implications for Cost-Effective CareMol Syndromol63141-1462015
Li YH,Yuan TM, Yu HMNeonatal diabetes mellitus in China: a case report and review of the Chinese literatureClin Pediatr (Phila)514366-3732012
McMillan T,Girgis R, Sellers EANeonatal diabetes and protein losing enteropathy: a case reportBMC Med Genet17322016
Dennerlein S,Rehling PHuman mitochondrial COX1 assembly into cytochrome c oxidase at a glanceJ Cell Sci1285833-8372015
Babenko AP,et al.Activating mutations in the ABCC8 gene in neonatal diabetes mellitusN Engl J Med3555456-4662006