Dominant GDAP1 mutations cause predominantly mild CMT phenotypes
نویسندگان
چکیده
منابع مشابه
CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration
GDAP1 is an outer mitochondrial membrane protein involved in Charcot-Marie-Tooth (CMT) disease. Lack of GDAP1 gives rise to altered mitochondrial networks and endoplasmic reticulum (ER)-mitochondrial interactions resulting in a decreased ER-Ca2+ levels along with a defect on store-operated calcium entry (SOCE) related to a misallocation of mitochondria to subplasmalemmal sites. The defect on SO...
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متن کاملA severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.
Charcot-Marie-Tooth (CMT) disease caused by mutations in the GDAP1 gene has been shown to be inherited via traits that may be either autosomal recessive (in the majority of cases) [CMT4A] or autosomal dominant [CMT2K]. CMT4A disease is characterized by an early onset, and a severe clinical course often leading to a loss of ambulation, whereas CMT2K is characterized by a mild clinical course of ...
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ژورنال
عنوان ژورنال: Neurology
سال: 2011
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e318228fc70