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

Rudenskaia G.E.; Bulakh M.V.; Milovidova T.B.; Shchagina O.A.

doi:https://doi.org/10.17116/jnevro201811811172

Rudenskaia G.E.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Bulakh M.V.

FSBI Research Centre for Medical Genetics, Moskvorechie 1, 115522 Moscow, Russia

Milovidova T.B.

Rossiĭskiĭ gosudarstvennyĭ meditsinskiĭ universitet;
Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva;
Voronezhskiĭ oblastnoĭ klinicheskiĭ diagnosticheskiĭ tsentr;
mezhoblastnaia mediko-geneticheskaia konsul'tatsiia

Shchagina O.A.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

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

Authors:

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

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2018;118(11): 72‑76

DOI: 10.17116/jnevro201811811172

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Rudenskaia GE, Bulakh MV, Milovidova TB, Shchagina OA. Coincidence of hereditary motor and sensory neuropathy type 1A and limb girdle muscular dystrophy type 2A. S.S. Korsakov Journal of Neurology and Psychiatry. 2018;118(11):72‑76. (In Russ.)
https://doi.org/10.17116/jnevro201811811172

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)

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Abstract:

A rare case of two neuromuscular disorders in a 29-year-old female is presented: autosomal dominant hereditary motor and sensory neuropathy type 1A (HMSN1A) due to PMP22 duplication and autosomal recessive limb girdle muscular dystrophy type 2A (LGMD2A) produced by CAPN3 common mutation c.550delA and novel c.575C>G (p.Thr192Ser).Walking difficulties appeared in 27 years, the patient had signs of both disorders, more of LGMD, but was not disabled. HMSN1A was inherited from her father whose disease was not recognized earlier.

Keywords:

hereditary motor and sensory neuropathy type 1A

PMP22 duplication

limb girdle muscular dystrophy type 2A

CAPN3 mutations

double trouble

Authors:

Rudenskaia G.E.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Bulakh M.V.

FSBI Research Centre for Medical Genetics, Moskvorechie 1, 115522 Moscow, Russia

Milovidova T.B.

Shchagina O.A.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN

Close metadata

References:

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