A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation

• Autorzy: Kabzinska D. , Kotruchow K. , Cegielska J. , Hausmanowa-Petrusewicz I. , Kochanski A.
• Języki publikacji: EN

Abstrakty

EN

Słowa kluczowe

EN

Charcot-Marie-Tooth disease; Charcot-Marie-Tooth neuropathy zob.Charcot-Marie-Tooth disease; Glu222Lys mutation; human disease; GDAP1 gene; gene mutation

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2014
• Tom: 61
• Numer: 4
• Opis fizyczny: p.739-744,fig.,ref.

Twórcy

autor

Kabzinska D.

• Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland

autor

Kotruchow K.

• Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland

autor

Cegielska J.

• Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
• IInd Department of Neurology, Warsaw Medical University, Poland

autor

Hausmanowa-Petrusewicz I.

• Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland

autor

Kochanski A.

• Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland