Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes

Neurology

Volumn 72, Issue 16, 2009, Pages 1432-1435

  Fanin, M ^a,b   Nascimbeni, A C ^a,b   Aurino, S ^c,d   Tasca, E ^a,b   Pegoraro, E ^a,b   Nigro, V ^c,d   Angelini, C ^a,b  

^a VENETIAN INSTITUTE OF MOLECULAR MEDICINE   (Italy)

^b UNIVERSITY OF PADOVA   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3; CAVEOLIN 3; CREATINE KINASE; DYSFERLIN; EMERIN; MESSENGER RNA; SARCOGLYCAN; CALPAIN; CAPN3 PROTEIN, HUMAN; DYSF PROTEIN, HUMAN; MEMBRANE PROTEIN; MUSCLE PROTEIN; NUCLEAR PROTEIN;

ARTICLE; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; ITALY; LGMD GENE; LGMD1C GENE; LGMD2A GENE; LGMD2B GENE; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MALE; MUSCLE BIOPSY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFECT; ADULT; CHILD; COHORT ANALYSIS; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GENOTYPE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY;

ADULT; AGE OF ONSET; CALPAIN; CAVEOLIN 3; CHILD; COHORT STUDIES; CREATINE KINASE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HUMANS; ITALY; MALE; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; NUCLEAR PROTEINS; PHENOTYPE; SARCOGLYCANS;

EID: 67449119353     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181a1885e     Document Type: Article

References (9)

1. Norwood F, de Visser M, Eymard B, Lochmuller H, Bushby K. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur J Neurol 2007; 14:1305-1312.
2. Ura S, Hayashi YK, Goto K, et al. Limb-girdle muscular dystrophy due to emerin gene mutations. Arch Neurol 2007;64:1038-1041.
3. Boito C, Fanin M, Siciliano G, Angelini C, Pegoraro E. Novel sarcoglycan gene mutations in a large cohort of Italian patients. J Med Genet 2003;40:1-7.
4. Fanin M, Fulizio L, Nascimbeni AC, et al. Molecular diagnosis of LGMD2A: gene mutation analysis or protein testing? Hum Mutat 2004;24:52-62.
5. Piluso G, Polhano L, Aurino S, et al. The extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. J Med Genet 2005;42:686-693.
6. Guglieri M, Magri F, DAngelo MG, 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.
7. Van der Kooi AJ, Frankhuizen WS, Barth PG, et al. Limb girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. Neurology 2007;68:2125-2128.
8. Sveen ML, Schwartz M, Vissing J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy 21 in Denmark. Ann Neurol 2006;59:808-815.
9. White SJ, de Willige SU, Verbove D, et al. Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis. Hum Mutat 2005;26:1-7.