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MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A

MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT; MTDPS12A
617184
OMIM = Online Mendelian Inheritance of Men
ADP/ATP translocase 1
4q35.1
rare
autosomal dominant
mutation in the SLC25A4 gene
Laboratory findings    L-Lactic acid inc (cerebrospinal fluid)
    L-Lactic acid inc (blood)
Symptoms    cardiomyopathy
    cardiomyopathy, hypertrophic
    defect of walking, running, rising or climbing
    early death
    feeding difficulties, poor feeding
    hyporeflexia
    hypotonia
    lactic acidosis
    muscle weakness
    onset, neonatal
    respiratory insufficiency