Merlini L, Villanova M, Sabatelli P, Trogu A, Malandrini A, Yanakiev P, Maraldi N M, Kalaydjieva L
Laboratory of Neuromuscular Patholog, Istituto Ortopedico Rizzoli, Bologna, Italy.
Neuromuscul Disord. 1998 May;8(3-4):182-5. doi: 10.1016/s0960-8966(98)00023-6.
We describe a form of hereditary motor and sensory neuropathy (HMSN) affecting four siblings in an Italian family of Gypsy ethnic origin with both clinical and pathological findings very reminiscent of the HMSN Lom type (HMSNL), recently described in a group of Bulgarian Gypsies. Genetic analysis demonstrated linkage to chromosome 8q24 and conserved haplotypes in the HMSNL region, thus confirming that this is the first Gypsy family outside the Balkans suffering from the same disorder.
我们描述了一种遗传性运动和感觉神经病（HMSN），该疾病影响了一个意大利吉普赛族家庭中的四个兄弟姐妹，其临床和病理表现非常类似于最近在一组保加利亚吉普赛人中描述的HMSN Lom型（HMSNL）。基因分析表明与8号染色体q24区域连锁，并且在HMSNL区域存在保守单倍型，从而证实这是巴尔干半岛以外首个患有相同疾病的吉普赛家庭。
