Twenty-two year follow-up of an Indian family with dysferlinopathy- clinical, immunocytochemical, western blotting and genetic features

Neurology India

Volumn 56, Issue 3, 2008, Pages 388-390

  Khadilkar, Satish ^a,d   Singh, Rakesh ^b   Agarwal, Pankaj ^a   Krahn, Martin ^c   Levy, Nicolas ^c  

^a SIR J J GROUP OF HOSPITALS   (India)

^b Wockhardt Hospitals India   (India)

^c TIMONE HOSPITAL   (France)

^d BOMBAY HOSPITAL   (India)

Author keywords

Dysferlinopathy; India; Phenotypic; Variability

Indexed keywords

CALCIUM; CREATINE KINASE; CYANOCOBALAMIN; DYSFERLIN; THYROTROPIN;

ADULT; ARTICLE; CALCIUM BLOOD LEVEL; CASE REPORT; DISEASE COURSE; DYSF GENE; DYSFERLINOPATHY; ELECTROPHYSIOLOGY; EXON; FOLLOW UP; GASTROCNEMIUS MUSCLE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC VARIABILITY; HAMSTRING; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; INDIA; MALE; MOBILIZATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MYALGIA; NEUROMUSCULAR DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PHYSICAL EXAMINATION; SIBLING; THYROTROPIN BLOOD LEVEL; TIBIALIS ANTERIOR MUSCLE; VITAMIN BLOOD LEVEL; WESTERN BLOTTING;

ADULT; BLOTTING, WESTERN; FAMILY HEALTH; HUMANS; IMMUNOHISTOCHEMISTRY; INDIA; LONGITUDINAL STUDIES; MALE; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE;

EID: 56049087757     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.43459     Document Type: Article

References (11)

1. Bushby KM. Making sense of the limb-girdle muscular dystrophies. Brain 1999;122:1403-20.
2. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998;20:31-6.
3. Nalini A, Gayathri N. Dysferlinopathy: A clinical and histopathological study of 28 patients from India. Neurol India 2008;58:379-385.
4. Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, et al. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat 2005;26:165.
5. Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-García R, Palmer J, et al. Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 2001;49:130-4.
6. Nguyen K, Bassez G, Krahn M, Bernard R, Laforêt P, Labelle V, et al. Phenotypic study in 40 patients with dysferlin gene mutations: High frequency of atypical phenotypes. Arch Neurol 2007;64:1176-82.
7. Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, et al. Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. Am J Hum Genet 1996;59:872-8.
8. Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Vereshchagin NV, Markova ED, Poleshchuk VV, et al. Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy. Brain 1996;119:1985-90.
9. Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, et al. A gene related to Caenorhabtidis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998;20:37-42.
10. Gallardo E, Rojas-García R, de Luna N, Pou A, Brown RH Jr, Illa I. Inflammation in dysferlin myopathy: Immunohistochemical characterization of 13 patients. Neurology 2001;57:2136-8.
11. Ho M, Gallardo E, McKenna-Yasek D, De Luna N, Illa I, Brown Jr RH. A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. Ann Neurol 2002;51:129-33.