Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles

Clinical Neurology and Neurosurgery

Volumn 106, Issue 2, 2004, Pages 122-128

  Nakamura, Akinori ^a   Yoshida, Kunihiro ^b   Ikeda, Shu Ichi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHINSHU UNIVERSITY HOSPITAL   (Japan)

Author keywords

Laminin 1 chain; Limb girdle muscular dystrophy; Rimmed vacuole

Indexed keywords

CALPAIN 3; DYSFERLIN; DYSTROGLYCAN; DYSTROPHIN; LAMININ 1; N ACETYLMANNOSAMINE KINASE; PROTEIN; SARCOGLYCAN; TELETHONIN; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BETA CHAIN; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DISEASE COURSE; EXTRAOCULAR MUSCLE; FACE MUSCLE; FEMALE; GENE EXPRESSION; GENE MUTATION; HEART MUSCLE; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MUSCLE ATROPHY; MUSCLE CELL; ONSET AGE; SIBLING; SKELETAL MUSCLE;

BIOPSY; CALPAIN; CHROMOSOME ABERRATIONS; CONSANGUINITY; CREATINE KINASE; CYTOPLASM; DNA MUTATIONAL ANALYSIS; FEMALE; GAIT APRAXIA; GENES, RECESSIVE; GENETIC MARKERS; HUMANS; INCLUSION BODIES; ISOENZYMES; L-LACTATE DEHYDROGENASE; MICROFILAMENTS; MICROSCOPY, ELECTRON; MICROSCOPY, FLUORESCENCE; MULTIENZYME COMPLEXES; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR ATROPHY; MUSCULAR DYSTROPHIES; NEUROLOGIC EXAMINATION; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TOMOGRAPHY, X-RAY COMPUTED; VACUOLES;

EID: 1542315488     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2003.10.010     Document Type: Article

References (24)

1. Bushby K.M. Making sense of the limb-girdle muscular dystrophies. Brain. 122:1999;1403-1420.
2. Richard I., Broux O., Allamand V.et al. Mutation in the proteolytic enzyme calpain 3 cause limb girdle muscular dystrophy type 2A. Cell. 81:1995;27-40.
3. Bashir R., Britton S., Strachan T.et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat. Genet. 20:1998;37-42.
4. Liu J., Aoki M., Illa I.et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat. Genet. 20:1998;31-36.
5. Moreira E.S., Wiltshire T.J., Faulkner G.et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat. Genet. 24:2000;163-166.
6. Weiler T., Greenberg C.R., Zelinski T.et al. A gene for autosomal recessive limb-girdle muscular dystrophy in Mnitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. Am. J. Hum. Genet. 63:1998;140-147.
7. Brockington M., Yuva Y., Prandini P.et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum. Mol. Genet. 10:2001;2851-2859.
8. Campbell K.P. Three muscular dystrophies: loss of cytoskeleton, extracellular matrix linkage. Cell. 80:1995;675-679.
9. Worton R. Muscular dystrophies: disease of the dystrophin-glycoprotein complex. Science. 270:1995;409-418.
10. Wewer U.M., Engvall E. Merosin/laminin-2 and muscular dystrophy. Neuromusc. Disord. 6:1996;408-409.
11. Helbling Leclerc A., Zhang X., Topaloglu H.et al. Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat. Genet. 11:1995;216-218.
12. Nissinen M., Helbling-Leclerc A., Zhang X. Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin α2-chain in congenital muscular dystrophy with partial deficiency of the protein. Am. J. Hum. Genet. 58:1996;1177-1184.
13. Hayashi Y.K., Engvall E., Arikawa-Hirasawa E.et al. Abnormal localization of laminin subunits in muscular dystrophies. J. Neurol. Sci. 119:1993;53-64.
14. Higuchi I., Yamada H., Fukunaga H.et al. Abnormal expression of laminin suggests disturbance of sarcolemma-extracellular matrix interaction in Japanese patients with autosomal recessive muscular dystrophy deficient in Adhalin. J. Clin. Invest. 94:1994;601-606.
15. Sewry C.A., Philpot J., Mahony D., Wilson L.A., Muntoni F., Dubowitz V. Expression of laminin subunits in congenital muscular dystrophy. Neuromusc. Disord. 5:1995;307-316.
16. Taylor J., Muntoni F., Robb S., Dubowitz V., Sewry C. Early onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin β1? Neuromusc. Disord. 7:1997;211-216.
17. Li M., Dickson D.W., Spiro A.J. Abnormal expression of laminin β1 chain in skeletal muscle of adult-onset limb-girdle muscular dystrophy. Arch. Neurol. 54:1997;1457-1461.
18. Merlini L., Villanova M., Sabatelli P., Malandrini A., Maraldi N.M. Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy. Neuromusc. Disord. 9:1999;326-329.
19. Eisenberg I., Avidan N., Potikha T.et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat. Genet. 29:2001;83-87.
20. Moreira E.S., Vainzof M., Marie S.K.et al. The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. Am. J. Hum. Genet. 61:1997;151-159.
21. Argov A., Yarom R. "Rimmed vacuole myopathy" sparing the quadriceps: a unique disorder in Iranian Jews. J. Neurol. Sci. 64:1984;33-43.
22. Sadeh M., Gadoth N., Hadar H., Ben-David E. Vacuolar myopathy sparing the quadriceps. Brain. 116:1993;217-232.
23. Tryggvason K. The laminin family. Curr. Opin. Cell Biol. 5:1982;877-882.
24. Dickson G., Azad A., Morris G.E., Simon H., Noursadeghi M., Walsh F.S. Co-localization and molecular association of dystrophin with laminin at the surface of mouse and human myotubes. J. Cell Sci. 103:1992;1223-1233.