CLINICAL AND GENETIC ANALYSIS OF LIPID STORAGE MYOPATHIES.
Ohkuma, Aya MD 1,2; Noguchi, Satoru PhD 1,2,3,4; Sugie, Hideo MD, PhD 3; Malicdan, May Christine V. MD 2; Fukuda, Tokiko MD 3; Shimazu, Kunio MD, PhD 2; Lopez, Luis Carlos PhD 4; Hirano, Michio MD 4; Hayashi, Yukiko K. MD, PhD 1,2,3,4; Nonaka, Ikuya MD, PhD 1,2,3,4; Nishino, Ichizo MD, PhD 1,2,3,4
[Article] Muscle & Nerve. 39(3):333-342, March 2009.

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colon; Causative genes have been identified only in four types of lipid storage myopathies (LSMs): SLC22A5 for primary carnitine deficiency (PCD); ETFA, ETFB, and ETFDH for multiple acyl-coenzyme A dehydrogenation deficiency (MADD); PNPLA2 for neutral lipid storage disease with myopathy (NLSDM); and ABHD5 for neutral lipid storage disease with ichthyosis. However, the frequency of these LSMs has not been determined. We found mutations in only 9 of 37 LSM patients (24%): 3 in SLC22A5; 4 in MADD-associated genes; and 2 in PNPLA2. This low frequency suggests the existence of other causative genes. Muscle coenzyme Q10 levels were normal or only mildly reduced in two MADD patients, indicating that ETFDH mutations may not always be associated with CoQ10 deficiency. The 2 patients with PNPLA2 mutations had progressive, non-episodic muscle disease with rimmed vacuoles. This suggests there is a different pathomechanism from other LSMs. Muscle Nerve 39: 333-342, 2009

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