Episodic myoglobinuria in a primary gamma-sarcoglycanopathy

Neuromuscular Disorders

Volumn 20, Issue 5, 2010, Pages 337-339

  Pena, Loren ^a,b   Kim, Katherine ^b   Charrow, Joel ^b  

^a UNIVERSITY OF CHICAGO   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Gamma sarcoglycanopathy; Metabolic myopathy; Muscular dystrophy; Myoglobinuria; Rhabdomyolysis

Indexed keywords

GAMMA SARCOGLYCAN;

ABDOMINAL PAIN; ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; ELECTROMYOGRAPHY; FEMALE; FEVER; FLANK PAIN; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; LEG PAIN; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOGLOBINURIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RHABDOMYOLYSIS; SCHOOL CHILD; URINALYSIS; VASTUS LATERALIS MUSCLE; VOMITING;

CHILD; FEMALE; HUMANS; MUSCULAR DYSTROPHIES; MYOGLOBINURIA; SARCOGLYCANS;

EID: 77952012365     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.02.015     Document Type: Article

References (13)

1. Guglieri M., Magri F., D'Angelo M.G., Prelle A., Morandi L., Rodolico C., et al. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed italian limb girdle muscular dystrophy patients. Hum Mutat 2008, 29:258-266.
2. Hack A.A., Groh M.E., McNally E.M. Sarcoglycans in muscular Dystrophy. Microsc Res Tech 2000, 48:167-180.
3. Mongini T., Doriguzzi C., Bosone I., Chiado-Piat L., Hoffman E.P., Palmucci L. Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria. Neuropediatrics 2002, 33:109-111.
4. Cagliani R., Comi G.P., Tancredi L., Sironi M., Fortunato F., Giorda R., et al. Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. Neuromuscul Disord 2001, 11:389-394.
5. Vorgerd M., Gencik M., Mortier J., Epplen J.T., Malin J.-P., Mortier W. Isolated loss of γ-sarcoglycan: diagnostic implications in autosomal recessive limb-girdle muscular dystrophies. Muscle Nerve 2001, 24:421-424.
6. Ozawa E., Mizuno Y., Hagiwara Y., Sasaoka T., Yoshida M. Molecular and cell biology of the sarcoglycan complex. Muscle Nerve 2005, 32:563-576.
7. Ozawa E., Noguchi S., Mizuno Y., Hagiwara Y., Yoshida M. From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve 1998, 21:421-438.
8. Norwood F., de Visser M., Eymard B., Lockmüller H., Bushby K. And members of EFNS guideline task force. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur J Neurol 2007, 14:1305-1323.
9. White SJ, Uitte de Willige S, Verbove D, Politano L, Ginjaar I, Breuning MH, et al. Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. Hum Mutat, Mutation in Brief #818 Online; 2005.
10. Dincer P., Akcoren Z., Demir E., Richard I., Sancak O., Kale G., et al. A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families. J Med Genet 2000, 37:361-367.
11. McPherson RA, Ben-Ezra J, Zhou S. Basic Examination of Urine. In: McPherson RA, Pincus MR, editors. Henry's clinical diagnosis and management by laboratory methods. 21st ed. Philadelphia: W.B. Saunders; 2006 [accessed online 9.26.09].
12. Huerta-Alardin A.L., Varon J., Marik P.E. Bench-to-bedside review: rhabdomyolysis - an overview for clinicians. Crit Care 2005, 9:158-169.
13. Abomousa A., Hoogendijk J., Charlton R., Barresi R., Herrmann R., Voit T., et al. Caveolinopathy - new mutations and additional symptoms. Neuromuscul Disord 2008, 18:572-578.