title: Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.
abstract: Charcot-Marie-Tooth type 4C4 disease (CMT4C4) is an early onset, autosomal recessive neuropathy with hoarseness caused by mutations in the GDAP1 gene which maps to the 8q13 region. To date, only 24 mutations in the GDAP1 gene have been reported. Neuropathological findings of sural nerve biopsies have been published for a limited number of CMT4C4 patients. Herein, a novel Pro153Leu mutation in the GDAP1 gene identified in a consanguineous Polish family is described and longitudinal clinical and electrophysiological studies as well as morphological findings are presented.
authors.affiliation: Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
authors.forename: D
authors.initials: D
authors.lastname: Kabzińska
authors.forename: G M
authors.initials: GM
authors.lastname: Saifi
authors.forename: H
authors.initials: H
authors.lastname: Drac
authors.forename: K
authors.initials: K
authors.lastname: Rowińska-Marcińska
authors.forename: I
authors.initials: I
authors.lastname: Hausmanowa-Petrusewicz
authors.forename: A
authors.initials: A
authors.lastname: Kochański
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D020558:GTP Phosphohydrolases / Q000235:genetics; D005838:Genotype; D006801:Humans; D007930:Leucine; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D026901:Membrane Transport Proteins / Q000235:genetics; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins / Q000235:genetics; D008969:Molecular Sequence Data; D009133:Muscular Atrophy; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010641:Phenotype; D011044:Poland; D011392:Proline
chemical_list: C118663:GDAP protein; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; D033681:Mitochondrial Membrane Transport Proteins; D024101:Mitochondrial Proteins; D009419:Nerve Tissue Proteins; D011392:Proline; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human; C470017:Mfn1 protein, human; D007930:Leucine