Test Information Sheet E-mail: Genedx@genedx
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In children with collagenopathy (Ullrich CMD or Bethlem myopathy), Standardized outcome measures would promote more rigorous research that would help identify complications and optimize treatment in these patients.e78. Slide. ... Retrieve Content
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Bethlem myopathy is a disorder characterized by slowly progres sive axial and proximal muscle weakness with flexion finger con tractures treatment with CsA (filled symbols in Fig. 3 B and B') or with the intracellular Ca2+ chelator l,2-bis(2-aminophenoxy)ethane ... Fetch This Document
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Myopathies - Medicine
Bethlem myopathy is a relatively benign, autosomal domi-nant condition that progresses insidiously from infancy, causing may demand treatment with oral hypoglycaemic drugs or even insulin during the early period of high-dose treatment. ... Access Doc
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ACADEMY ANNUAL ASSEMBLY ABSTRACTS E83
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Test Information Sheet E-mail: Genedx@genedx
GeneDx, Inc. 207 Perry Parkway Gaithersburg, MD 20877 Phone: 301-519-2100 Assist with treatment/ management decisions 4. Genetic counseling and recurrence risk assessment ~62% of patients with Ullrich or Bethlem myopathy have a mutation in one of the three collagen VI genes (COL6A1 ... Fetch Full Source
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ACADEMY ANNUAL ASSEMBLY ABSTRACTS E83
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In Reply - JAMA Neurology
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