Charcot-Marie-Tooth disease, Type 2B1

Known as: CMT2B1, Charcot-Marie-Tooth disease, axonal, Type 2B1, Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2003-2015
0120032015

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2015
2015
INTRODUCTION Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive… (More)
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2011
2011
Dilated cardiomyopathy (DCM) is a frequent form among the cardiomyopathies and displays a very heterogeneous etiology. It is a… (More)
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2008
2008
CMT2B1, an axonal subtype (MIM 605588) of the Charcot-Marie-Tooth disease, is an autosomal recessive motor and sensory neuropathy… (More)
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2007
2007
Charcot-Marie-Tooth disease is a genetically heterogeneous group of hereditary motor and sensory neuropathies. Three loci for the… (More)
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2005
2005
Sirs: We describe a family with adult-onset limb girdle muscular dystrophy 1B (LGMD1B) due to a new mutation in LMNA encoding for… (More)
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2003
2003
T he autosomal dominant form of Emery-Dreifuss muscular dystrophy (EDMD2; OMIM #181350) was the first disorder to be associated… (More)
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