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Muscle carnitine deficiency: adult onset lipid storage myopathy with sensory neuropathy

✍ Scribed by Wei Zhang; Jianting Miao; Guangyun Zhang; Rui Liu; Dawei Zhang; Qun Wan; Yingxin Yu; Gang Zhao; Zhuyi Li

Book ID: 106268752
Publisher: Springer Milan
Year: 2009
Tongue: English
Weight: 229 KB
Volume: 31
Category: Article
ISSN: 1590-1874
DOI: 10.1007/s10072-009-0128-5

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linked to the phenotype in the families we have analyzed (manuscript in preparation). These observations may indicate that convulsions could be only one of the modes of expression of BFNC and BIFC mutant genes.