Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.

@article{Kalaydjieva1998HereditaryMA,
  title={Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings.},
  author={Luba V Kalaydjieva and Amelia Nikolova and Ivailo Turnev and Julia J Petrova and Anna Hristova and Boryana Ishpekova and I. Tsankova Petkova and Alexander Shmarov and Stella Stancheva and Laura Middleton and Luciano Merlini and A Trogu and John R. Muddle and Rosalind H. M. King and Professor P. K. Thomas},
  journal={Brain : a journal of neurology},
  year={1998},
  volume={121 ( Pt 3)},
  pages={399-408}
}
A previously unrecognized neuropathy was identified in Bulgarian gypsies, and was designated hereditary motor and sensory neuropathy-Lom (HMSNL) after the town where the initial cases were found. It was subsequently identified in other gypsy communities. The disorder, which is of autosomal recessive inheritance, was mapped to chromosome 8q24. It begins… CONTINUE READING