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Summary
SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT SPG73
CARNITINE PALMITOYLTRANSFERASE 1C
616282
OMIM = Online Medalian Inheritance of Men
444099
19q13.33
very rare (1 patient)
autosomal dominant
mutation in the CPT1C gene
symptoms
defect of walking, running, rising or climbing
hyperreflexia
muscle atrophy
muscle weakness
renal dysfunction, renal defects
spastic paraplegia
laboratory finding
Literature
Park CW,et al.Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a familyClin Nephrol75169-742011
Nomura N,et al.Treatment with 17-allylamino-17-demethoxygeldanamycin ameliorated symptoms of Bartter syndrome type IV caused by mutated Bsnd in miceBiochem Biophys Res Commun4413544-5492013