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Items: 4

1.
Congenital Generalized Lipodystrophy, Type 4 (CGL4) Associated with Myopathy due to Novel PTRF Mutations
Savitha Shastry, Mauricio R. Delgado, Eray Dirik, Mehmet Turkmen, Anil K. Agarwal, Abhimanyu Garg
Am J Med Genet A. Author manuscript; available in PMC 2011 Sep 1.
Published in final edited form as: Am J Med Genet A. 2010 Sep; 152A(9): 2245–2253. doi: 10.1002/ajmg.a.33578
PMCID:
PMC2930069
AbstractArticlePDF–945K
2.
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy
Yukiko K. Hayashi, Chie Matsuda, Megumu Ogawa, Kanako Goto, Kayo Tominaga, Satomi Mitsuhashi, Young-Eun Park, Ikuya Nonaka, Naomi Hino-Fukuyo, Kazuhiro Haginoya, Hisashi Sugano, Ichizo Nishino
J Clin Invest. 2009 Sep 1; 119(9): 2623–2633. Published online 2009 Aug 10. doi: 10.1172/JCI38660
PMCID:
PMC2735915
AbstractArticlePDF–4.9M
3.
Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease
P Y K Van den Bergh, J Gerard, J Elosegi, M Manto, C Kubisch, B Schoser
J Neurol Neurosurg Psychiatry. 2004 Sep; 75(9): 1349–1351. doi: 10.1136/jnnp.2003.028217
PMCID:
PMC1739247
SummaryPDF–79K
4.
Benign familial disease with muscle mounding and rippling.
R J Burns, A H Bretag, P C Blumbergs, M G Harbord
J Neurol Neurosurg Psychiatry. 1994 Mar; 57(3): 344–347. doi: 10.1136/jnnp.57.3.344
PMCID:
PMC1072826
SummaryPage BrowsePDF–853K

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