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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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Autosomal recessive inheritanceFoot DeformitiesFootdropTalipes cavus

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Charcot-Marie-Tooth Disease

Papers overview

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2015
2015
Muscle fiber type disproportion (FTD) in a family with mutations in the LMNA gene.
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
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
Sudden cardiac death in a patient with lamin A/C mutation in the absence of dilated cardiomyopathy or conduction disease
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
An Axon Regeneration Signature in a Charcot-Marie-Tooth Disease Type 2 Patient
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
Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.
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
Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
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
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.
The autosomal dominant form of Emery-Dreifuss muscular dystrophy (EDMD2; OMIM #181350) was the first disorder to be associated… Expand
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