Association of homozygous LMNA mutation R471C with new phenotype: Mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy

American Journal of Medical Genetics, Part A

Volumn 146, Issue 8, 2008, Pages 1049-1054

  Zirn, Birgit ^a   Kress, Wolfram ^b   Grimm, Tiemo ^b   Berthold, Lars Daniel ^a   Neubauer, Bernd ^a   Kuchelmeister, Klaus ^a   Müller, Ulrich ^a   Hahn, Andreas ^a  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

LMNA; Mandibuloacral dysplasia; Muscular dystrophy; Progeria; Spinal rigidity

Indexed keywords

LAMIN A; LMNA PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BONE DYSPLASIA; CASE REPORT; CLINICAL FEATURE; CONSANGUINITY; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MUSCLE CONTRACTURE; MUSCLE RIGIDITY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; OSTEODYSTROPHY; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROGERIA; SCHOOL CHILD; SPINE MOBILITY; CHILD; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; GENETICS; HOMOZYGOTE; MUTATION; PATHOPHYSIOLOGY; PHENOTYPE; SPINE;

CHILD; CRANIOFACIAL ABNORMALITIES; FEMALE; HOMOZYGOTE; HUMANS; LAMIN TYPE A; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; PROGERIA; SPINE;

EID: 42949110706     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32259     Document Type: Article

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