Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype
Corresponding Author
Isabel Illa MD
Neuromuscular Diseases Section, Department of Neurology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Department of Neurology, Hospital Santa Creu i Sant Pau, Av Pare Claret 167, Barcelona 08025, SpainSearch for more papers by this authorCarme Serrano-Munuera MD
Neuromuscular Diseases Section, Department of Neurology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorEduard Gallardo PhD
Neuromuscular Diseases Section, Department of Neurology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorAdriana Lasa PhD
Department of Genetics, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorRicardo Rojas-García MD
Neuromuscular Diseases Section, Department of Neurology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorJaume Palmer MD
Department of Radiology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorPia Gallano PhD
Department of Radiology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorMontserrat Baiget PhD
Department of Radiology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorChie Matsuda PhD
Day Neuromuscular Research Laboratory, Charlestown, MA
Search for more papers by this authorRobert H. Brown MD, PhD
Day Neuromuscular Research Laboratory, Charlestown, MA
Search for more papers by this authorCorresponding Author
Isabel Illa MD
Neuromuscular Diseases Section, Department of Neurology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Department of Neurology, Hospital Santa Creu i Sant Pau, Av Pare Claret 167, Barcelona 08025, SpainSearch for more papers by this authorCarme Serrano-Munuera MD
Neuromuscular Diseases Section, Department of Neurology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorEduard Gallardo PhD
Neuromuscular Diseases Section, Department of Neurology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorAdriana Lasa PhD
Department of Genetics, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorRicardo Rojas-García MD
Neuromuscular Diseases Section, Department of Neurology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorJaume Palmer MD
Department of Radiology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorPia Gallano PhD
Department of Radiology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorMontserrat Baiget PhD
Department of Radiology, Hospital Santa Creu i Sant Pau, Universitat Autònoma de Barcelona (UAB), Barcelona, Spain
Search for more papers by this authorChie Matsuda PhD
Day Neuromuscular Research Laboratory, Charlestown, MA
Search for more papers by this authorRobert H. Brown MD, PhD
Day Neuromuscular Research Laboratory, Charlestown, MA
Search for more papers by this authorAbstract
We report a family with a new phenotype of autosomal recessive muscle dystrophy caused by a dysferlin mutation. The onset of the illness is distal, in the muscles of the anterior compartment group. The disease is rapidly progressive, leading to severe proximal weakness. Muscle biopsy showed moderate dystrophic changes with no vacuoles. Dysferlin immunostaining was negative. Gene analysis revealed a frameshift mutation in the exon 50 (delG5966) of the DYSF gene. This phenotype further demonstrates the clinical heterogeneity of the dysferlinopathies. Ann Neurol 2001;49:130–134
References
- 1 Barohn RJ, Miller RG, Griggs RC. Autosomal recessive distal dystrophy. Neurology 1991; 41: 1365–1370.
- 2 Illa I. Miopatías distales: lecciones de la clínica y la genética. Neurologia 2000; 15: 189–192.
- 3 Nonaka I. Distal myopathies. Curr Opin Neurol 1999; 12: 493–499.
- 4 Somer H. Workshop report: distal myopathies. Neuromusc Disord 1995; 5: 249–252.
- 5 Griggs R, Markesbery W. Distal myopathies. In: A Engel, C Franzini-Armstrong, editors. Myology, vol 2. New York: McGraw-Hill, 1994: 1246–1257.
- 6 Barohn RJ, Amato AA, Griggs RC. Overview of distal myopathies: from the clinical to the molecular. Neuromusc Disord 1998; 8: 309–316.
- 7 Miyoshi K, Kawai H, Iwasa M, et al. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: seventeen cases in eight families including an autopsied case. Brain 1986; 109: 31–54.
- 8 Nonaka I, Sunohara N, Ishiura S, Satoyoshi E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 1981; 51: 141–155.
- 9 Nonaka I, Sunohara N, Satoyoshi E, et al. Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation. Ann Neurol 1985; 17: 51–59.
- 10 Ikeuchi T, Asaka T, Saito M, et al. Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9. Ann Neurol 1997; 41: 432–437.
- 11 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 1998; 20: 31–36.
- 12 Bejaoui K, Hirabayashi K, Hentati F, et al. Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12–14. Neurology 1995; 45: 768–772.
- 13 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 1998; 20: 37–42.
- 14 Illa I, Serrano C, Gallardo E, et al. Distal anterior compartment myopathy: a new severe dystrophic phenotype linked to chromosome 2p13. Neurology 1998; 50: A186.
- 15 Illa I, Leon-Monzon M, Dalakas MC. Regenerating and denervated human muscle fibers and satellite cells express neural cell adhesion molecule recognized by monoclonal antibodies to natural killer cells. Ann Neurol 1992; 31: 46–52.
- 16 Matsuda C, Aoki M, Hayashi YK, et al. Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology 1999; 53: 1119–1122.
- 17 Sunohara N, Nonaka I, Kamei N, Satoyoshi E. Distal myopathy with rimmed vacuole formation: a follow-up study. Brain 1989; 112: 65–83.
- 18 Markesbery W, Griggs R, Herr B. Distal myopathy: electron microscopic and histochemical studies. Neurology 1977; 27: 727–735.
- 19 Scoppetta C, Vaccario ML, Casali C, et al. Distal muscular dystrophy with autosomal recessive inheritance. Muscle Nerve 1984; 7: 478–481.
- 20 Galassi G, Rowland LP, Hays AP, et al. High serum levels of creatine kinase: asymptomatic prelude to distal myopathy. Muscle Nerve 1987; 10: 346–350.
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