Coincidence of hereditary motor and sensory neuropathy type 1A and limb lumbo-muscular dystrophy type 2A

Author:

Rudenskaya G. E.,Bulakh M. V.,Milovidova T. B.,Shchagina O. A.

Publisher

Media Sphere Publishing Group

Subject

Psychiatry and Mental health,Clinical Neurology

Reference32 articles.

1. Rudenskaya GE, Zakharova EYu. Hereditary neurometabolic disorders of young and adult age. M.: Geotar-Media; 2018. (In Russ.)

2. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy

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

4. OMIM (On-line Mendelian Inheritance in Man). http://www.ncbi.nlm

5. Milovidova TB, Schagina OA, Dadali EL, Polyakov AV. Classification and diagnostic algorithtms of genetic variants of hereditary motor and sensory neuropathies. Meditsinskaya Genetika. 2011;10(4):10-16. (In Russ.)

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