Nicola C Ho Stacey Sandusky Victor Madike Clair A Francomano Marinos C Dalakas
10.1186/1471-2377-3-3
BMC Neurol
2003 Jul 2;3:3.
NO-CC CODE
https://pubmed.ncbi.nlm.nih.gov/12839625/
Heparan Sulfate Proteoglycans / genetics Osteochondrodysplasias / diagnosis Osteochondrodysplasias / genetics
Heparan Sulfate Proteoglycans / genetics Osteochondrodysplasias / diagnosis Osteochondrodysplasias / genetics Case Reports Abnormalities, Multiple / diagnosis Abnormalities, Multiple / genetics Alleles Alternative Splicing Carbamazepine / therapeutic use Child DNA Mutational Analysis Heparan Sulfate Proteoglycans / deficiency Heterozygote Humans Male Mutation Osteochondrodysplasias / therapy Physical Therapy Modalities White People Heparan Sulfate Proteoglycans perlecan Carbamazepine
PMC166146
12839625
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report
2003