| CASE REPORT |
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| Year : 2012 | Volume
: 60
| Issue : 6 | Page : 631--634 |
Distal myopathy with rimmed vacuoles and inflammation: A genetically proven case
Meena A Kannan1, S Challa2, Andoni J Urtizberea1, Martin Krahn3, AS Jabeen1, R Borgohain1
1 Department of Neurology, Nizam's Institute of Medical Sciences, Hyderabad, India
2 Department of Pathology, Nizam's Institute of Medical Sciences, Hyderabad, India
3 Institut de Myologie, Hôpital de la Salpêtrière, 75651 Paris Cedex, France
Correspondence Address:
Meena A Kannan
Department of Neurology, Nizam's Institute of Medical Sciences, Punjagutta, Hyderabad- 500 082
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0028-3886.105199
Distal myopathy with rimmed vacuoles (DMRV) is a major entity of distal myopathy. It is an autosomal recessive disorder and is due to mutations in the GNE gene that regulates the synthesis of sialic acid. Although reported predominantly from Japan, cases have been reported from other parts of the world. We report the first genetically proven case of DMRV from India in a 23-year-old male with gradual onset, progressive distal weakness of both lower limbs with features of inflammation in muscle biopsy.
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