A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

Charcot-Marie-Tooth disease （CMT）, also known as hereditary motor and sensory neuropathies,comprises a genetically heterogeneous group of inherited peripheral neuropathies. Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon refl...

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Veröffentlicht in:	Chinese medical journal 2010-06, Vol.123 (11), p.1466-1469
Hauptverfasser:	Ching, Chor Kwan, Lau, Kwok Kwong, Yu, Kwok Wai, Chan, Yan Wo Albert, Mak, Miu Chloe
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Charcot-Marie-Tooth Disease - etiology Charcot-Marie-Tooth Disease - genetics Female GTP Phosphohydrolases Humans Membrane Proteins - genetics Mitochondrial Proteins - genetics Mutation Sequence Analysis, DNA 基因突变感觉神经肌肉萎缩萎缩症遗传异质性
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Beschreibung
Zusammenfassung:	Charcot-Marie-Tooth disease （CMT）, also known as hereditary motor and sensory neuropathies,comprises a genetically heterogeneous group of inherited peripheral neuropathies. Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon reflexes. Following electrophysiological criteria, CMT is divided into two main forms：
ISSN:	0366-6999 2542-5641
DOI:	10.3760/cma.j.issn.0366-6999.2010.11.022