DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene [2]

American Journal of Human Genetics

Volumn 61, Issue 1, 1997, Pages 231-233

  Pratt, V M ^a   Jackson, C E ^a   Wallace, D C ^a   Gurley, D S ^a   Feit, A ^a   Feldman, G L ^a  

^a Medical Genetics/Birth Defects Ctr   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN; MITOCHONDRIAL DNA;

ALLELE; CHROMOSOME 15Q; GENE MUTATION; HOMOZYGOSITY; HUMAN; LETTER; LIMB GIRDLE MUSCULAR DYSTROPHY; MITOCHONDRION; MUSCLE WEAKNESS; ONSET AGE; PRIORITY JOURNAL;

EID: 0030818320     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0002-9297(07)64296-7     Document Type: Letter

References (7)

1. V Allamand O Broux I Richard F Fougerousse N Chiannilkul-chai N Bourg L Brenguier Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15ql5.1-ql5.3 interval Am J Hum Genet 56 1995 1417 1430
2. JS Beckmann The Reunion paradox and the digenic model Am J Hum Genet 59 1996 1400 1402
3. JS Beckmann I Richard D Hillaire O Broux C Antignac E Bois H Cann A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage CR Acad Sci III 312 1991 141 148
4. CE Jackson DA Strehler Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease Pediatrics 41 1968 495 502
5. I Richard O Broux V Allamand F Fougerousse N Chiannilkul-chai N Bourg L Brenguier Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A Cell 81 1995 27 40
6. A Torroni MT Lott MF Cabell Y-S Chen L Lavergne DC Wallace mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region Am J Hum Genet 55 1994 760 776
7. J Zlotogora V Gieselmann G Bach Multiple mutations in a specific gene in a small geographic area: a common phenomenon? Am J Hum Genet 58 1996 241 243