FAQ

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

Related topics

Related topics

5 relations
Autosomal recessive inheritanceFoot DeformitiesFootdropTalipes cavus

Broader (1)

Charcot-Marie-Tooth Disease

Related mentions per year

Related mentions per year

1937-2018
19401960198020002020
Charcot-Marie-Tooth disease, Type 2B1
Autosomal recessive inheritance
Charcot-Marie-Tooth Disease
Foot Deformities
Talipes cavus
Footdrop

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… (More)
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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… (More)
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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… (More)
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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… (More)
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2005
2005
A new LMNA mutation causing limb girdle muscular dystrophy 1B
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
A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B.
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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