[Sarcoglycanopathies, a particular limb-girdle muscular dystrophy type (phenotype in three Polish families): initial report].
Sarcoglycanopathies are relatively rare progressive muscular dystrophies. They belong to the so-called group of limb--girdle muscular dystrophies. They are inherited in an autosomal recessive fashion. Their phenotype resembles dystrophinopathies, because of proximal muscle weakness and frequent calves hypertrophy. Here we present the first Polish families in which sarcoglycanopathy was diagnosed.
Dorobek
Małgorzata
M
Zespołu Badawczo-Leczniczego Chorób Nerwowo-Mieśniowych, Centrum Medycyny Doświadczalnej i Klinicznej, PAN, Kliniki Neurologicznej Akademii Medycznej w Warszawie. mdorobek@amwaw.edu.pl
Fidziańska-Dolot
Anna
A
D000293:Adolescent; D000911:Antibodies, Monoclonal / Q000378:metabolism; D002648:Child; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics* / Q000378:metabolism; D049030:Dystroglycans; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D012508:Sarcolemma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
D000911:Antibodies, Monoclonal; D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D008562:Membrane Glycoproteins; D049030:Dystroglycans
Sarkoglikanopatie, szczególny typ dystrofii obreczowo-kończynowej (fenotyp w trzech polskich rodzinach)--doniesienie wstepne.