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Charcot-Marie-Tooth disease, Type 2B1

Known as: CMT2B1, CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2B1, Charcot-Marie-Tooth disease, axonal, Type 2B1 
 
National Institutes of Health

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2015
2015
INTRODUCTION Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive… Expand
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2014
2014
Limb-girdle muscular dystrophy type 1B is characterized by progressive limb-girdle weakness (affecting the pelvic before shoulder… Expand
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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… Expand
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2009
2009
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited peripheral neuropathies. The underlying mutations in… Expand
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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… Expand
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2006
2006
Charcot-Marie-Tooth disease is a genetically heterogeneous group of hereditary motor and sensory neuropathies. Three loci for the… Expand
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2003
2003
The autosomal dominant form of Emery-Dreifuss muscular dystrophy (EDMD2; OMIM #181350) was the first disorder to be associated… Expand
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