scholarly journals Ullrich congenital muscular dystrophy and bethlem myopathy: clinical and genetic heterogeneity

2005 ◽  
Vol 63 (3b) ◽  
pp. 785-790 ◽  
Author(s):  
Umbertina Conti Reed ◽  
Lucio Gobbo Ferreira ◽  
Enna Cristina Liu ◽  
Maria Bernadete Dutra Resende ◽  
Mary Souza Carvalho ◽  
...  

Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity and severe course. A mild or moderate involvement can be occasionally observed. OBJECTIVE: To evaluate the clinical picture of CMD patients with Ullrich phenotype who presented decreased or absent collagen VI immunoreactivity on muscular biopsy. RESULTS: Among 60 patients with CMD, two had no expression of collagen V and their clinical involvement was essentially different: the first (3 years of follow-up) has mild motor difficulty ; the second (8 years of follow-up) never acquired walking and depends on ventilatory support. A molecular study, performed by Pan et al. at the Thomas Jefferson University, demonstrated in the first a known mutation of Bethlem myopathy in COL6A1 and in the second the first dominantly acting mutation in UCMD and the first in COL6A1, previously associated only to Bethlem myopathy, with benign course and dominant inheritance. CONCLUSION: Bethlem myopathy should be considered in the differential diagnosis of UCMD, even in patients without fingers contractures; overlap between Ullrich and Bethlem phenotypes can be supposed.

2014 ◽  
Vol 10 (2) ◽  
pp. 126-132 ◽  
Author(s):  
Yan-Zhi Zhang ◽  
Dan-Hua Zhao ◽  
Hai-Po Yang ◽  
Ai-Jie Liu ◽  
Xing-Zhi Chang ◽  
...  

Author(s):  
Shruti Bajaj ◽  
Piyush Shah ◽  
Venu Seenappa ◽  
Jayashree Kalyankar ◽  
Divyata Hingwala

AbstractWe reported a neonate presenting with muscle weakness, hypotonia, and joint contractures since birth. Investigations revealed significantly elevated creatinine-phosphokinase, abnormal electromyography suggestive of muscle disease and normal magnetic resonance imaging (MRI) of the brain. Exome sequencing revealed homozygous pathogenic mutations in LAMA2 (NM_000426.3: c.7881T > G, p.(His2627Gln)) and a heterozygous likely-pathogenic mutation in COL6A2 (NM_001849.3: c.1970–2A > G). Parental segregation by Sanger sequencing confirmed a heterozygous carrier state for the LAMA2 variant in both parents, thus confirming the diagnosis of autosomal recessive LAMA2-muscular dystrophy (LAMA2-MD) in the proband. The COL6A2 variant segregated with the as-yet asymptomatic mother. Musculoskeletal MRI of the proband at 12 months of age revealed peripheral involvement of the vastii, rectus femoris, gastrocnemius and the soleus, with relative central sparing, without areas of fatty infiltration; not serving to distinguish clearly between LAMA-MD and COL6A2- related disease. Reverse phenotyping of a 27-year-old mother revealed a normal musculoskeletal MRI and clinically absent red flags. Potential explanations for the heterozygous likely-pathogenic COL6A2 variant in the proband and the mother include (a) a coexisting diagnosis of autosomal dominant COL6A2-related myopathy, likely Bethlem myopathy, which has a variable clinical phenotype and age of onset; (b) a carrier state for autosomal recessive Ullrich congenital muscular dystrophy; or (c) a heterozygous COL6A2 variant contributing as a synergistic factor along with homozygous LAMA2 mutation. The couple was offered genetic counseling regarding the proband and the future pregnancies.


2004 ◽  
Vol 24 (6) ◽  
pp. 440-444 ◽  
Author(s):  
Martin Brockington ◽  
Susan C. Brown ◽  
Anne Lampe ◽  
Yeliz Yuva ◽  
Lucy Feng ◽  
...  

2002 ◽  
Vol 277 (46) ◽  
pp. 43557-43564 ◽  
Author(s):  
Rui-Zhu Zhang ◽  
Patrizia Sabatelli ◽  
Te-Cheng Pan ◽  
Stefano Squarzoni ◽  
Elisabetta Mattioli ◽  
...  

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