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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

Broader (1)

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
Mutations in the lamin A/C protein cause laminopathies, a heterogeneous group of disorders that include recessive axonal… 
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… 
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… 
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… 
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… 
2007
2007
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… 
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… 
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