Mastrapasqua M, Rossi R, De Cosmo L, Resta A, Errede M, Bizzoca A
Eur J Transl Myol. 2023; 33(3).
PMID: 37522802
PMC: 10583158.
DOI: 10.4081/ejtm.2023.11501.
Jayakody H, Zarei S, Nguyen H, Dalton J, Chen K, Hudgins L
J Neuropathol Exp Neurol. 2020; 79(9):998-1010.
PMID: 32827036
PMC: 7445049.
DOI: 10.1093/jnen/nlaa062.
Graziano A, Bianco F, DAmico A, Moroni I, Messina S, Bruno C
Neurology. 2015; 84(9):904-11.
PMID: 25653289
PMC: 4351663.
DOI: 10.1212/WNL.0000000000001303.
Sellick G, Longman C, Brockington M, Mahjneh I, Sagi L, Bushby K
Hum Genet. 2005; 117(2-3):207-12.
PMID: 15886997
DOI: 10.1007/s00439-005-1301-4.
Brockington M, Blake D, Prandini P, Brown S, Torelli S, Benson M
Am J Hum Genet. 2001; 69(6):1198-209.
PMID: 11592034
PMC: 1235559.
DOI: 10.1086/324412.
Age and origin of the FCMD 3'-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population.
Colombo R, Bignamini A, Carobene A, Sasaki J, Tachikawa M, Kobayashi K
Hum Genet. 2001; 107(6):559-67.
PMID: 11153909
DOI: 10.1007/s004390000421.
Alterations of the retino-cortical conduction in patients affected by classical congenital muscular dystrophy (CI-CMD) with merosin deficiency.
Tormene A, Trevisan C, Martinello F, Riva C, Pastorello E
Doc Ophthalmol. 2000; 98(2):127-38.
PMID: 10946999
DOI: 10.1023/a:1002093705611.
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V
J Med Genet. 1998; 35(3):211-7.
PMID: 9541105
PMC: 1051244.
DOI: 10.1136/jmg.35.3.211.
Refinement of the laminin alpha2 chain locus to human chromosome 6q2 in severe and mild merosin deficient congenital muscular dystrophy.
Naom I, dAlessandro M, Topaloglu H, Sewry C, Ferlini A, Guicheney P
J Med Genet. 1997; 34(2):99-104.
PMID: 9039983
PMC: 1050860.
DOI: 10.1136/jmg.34.2.99.
Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry.
Herrmann R, Straub V, Meyer K, Kahn T, Wagner M, Voit T
Eur J Pediatr. 1996; 155(11):968-76.
PMID: 8911899
DOI: 10.1007/BF02282889.
Syndromes with lissencephaly.
Pilz D, Quarrell O
J Med Genet. 1996; 33(4):319-23.
PMID: 8730288
PMC: 1050582.
DOI: 10.1136/jmg.33.4.319.
Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein.
Nissinen M, Zhang X, Evangelista T, Topaloglu H, Cruaud C, Weissenbach J
Am J Hum Genet. 1996; 58(6):1177-84.
PMID: 8651294
PMC: 1915067.
Congenital muscular dystrophy and severe central nervous system atrophy in two siblings.
Leyten Q, Barth P, Gabreels F, Renkawek K, Renier W, Gabreels-Festen A
Acta Neuropathol. 1995; 90(6):650-6.
PMID: 8615088
DOI: 10.1007/BF00318580.
