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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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5 relations
Autosomal recessive inheritanceFoot DeformitiesFootdropTalipes cavus

Broader (1)

Charcot-Marie-Tooth Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
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… 
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