Clinical/genetic characteristics of patients with congenital muscular dystrophy caused by mutations in the LMNA gene

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Dadali E.L.

FGBU Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Sharkova I.V.

Adyan T.A.

Research centre for medical genetics, Moskow

Milovidova T.B.

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

Poliakov A.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Clinical/genetic characteristics of patients with congenital muscular dystrophy caused by mutations in the LMNA gene

Authors:

Dadali E.L., Sharkova I.V., Adyan T.A., Milovidova T.B., Poliakov A.V.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2016;116(1): 70‑75

DOI: 10.17116/jnevro20161161170-75

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To cite this article:

Dadali EL, Sharkova IV, Adyan TA, Milovidova TB, Poliakov AV. Clinical/genetic characteristics of patients with congenital muscular dystrophy caused by mutations in the LMNA gene. S.S. Korsakov Journal of Neurology and Psychiatry. 2016;116(1):70‑75. (In Russ.)
https://doi.org/10.17116/jnevro20161161170-75

Подписка 2025-2 (S.S. Korsakov Journal of Neurology and Psychiatry)

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Objective — to study clinical/genetic characteristics of congenital muscular dystrophy caused by mutations in the LMNA gene in 5 patients from the Russian population. Material and methods. DNA samples of 42 probands, aged from 2 months to 9 years, with characteristic signs of congenital muscular dystrophy from nonrelated families were studied. The diagnosis was based on the results of genealogical analysis, neurological examination, serum creatine phosphokinase activity, results of electroneuromyography. Results and conclusion. In the Russian population, the frequency of congenital muscular dystrophy caused by mutations in the LMNA gene is not less than 12% of all cases of this group of diseases. The results indicate the presence of major mutation c.94_96delAAC in the LMNA gene. Specific phenotypic features of this form of congenital muscular dystrophy with symptoms of progressive flaccid paralysis with predominant lesions of axial muscles and plantar flexor muscles of the foot are described.

Keywords:

congenital muscular dystrophy

LMNA gene

hanging head symptom

early contractures of ankle joints

Authors:

Dadali E.L.

FGBU Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

Sharkova I.V.

Adyan T.A.

Research centre for medical genetics, Moskow

Milovidova T.B.

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

Poliakov A.V.

Mediko-geneticheskiĭ nauchnyĭ tsentr RAMN, Moskva

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