A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14

Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients

(2010) Claudia Braida et al.   HUMAN MOLECULAR GENETICS

Myotonic dystrophy type I combined with X-linked dominant Charcot–Marie–Tooth neuropathy

(2010) Hyun Sook Kim et al.   NEUROGENETICS

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

(2009) Jan Senderek et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot-Marie-Tooth neuropathy and early hearing loss

(2009) F Spaans et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Diagnosis and new treatments in genetic neuropathies

(2009) M M Reilly et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Diagnosis, natural history, and management of Charcot–Marie–Tooth disease

(2009) Davide Pareyson et al.   LANCET NEUROLOGY

Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

(2009) Alejandro Leal et al.   NEUROGENETICS

Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles

(2009) Ikuya Nonaka et al.   NEUROLOGY INDIA

165th ENMC International Workshop: Distal myopathies 6–8th February 2009 Naarden, The Netherlands

(2009) B. Udd   NEUROMUSCULAR DISORDERS