scholarly journals Immunohistochemical alterations of dystrophin in congenital muscular dystrophy

1995 ◽  
Vol 53 (3a) ◽  
pp. 416-423 ◽  
Author(s):  
Lineu Cesar Werneck ◽  
Eduardo Bonilla
Keyword(s):  
Plasma Membrane ◽  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Polyclonal Antibody ◽  
Autosomal Recessive ◽  
Congenital Muscular Dystrophy ◽  
Becker Muscular Dystrophy ◽  
Muscle Membrane ◽  
Total Absence ◽  
Dystrophin Expression

The dystrophin distribution in the plasma muscle membrane using immunohystochemistry was studied in 22 children with congenital muscular dystrophy. The dystrophin was detected by immunofluorescence in muscle biopsy through a polyclonal antibody. All the cases had patchy interruptions of the fluorescence in the plasma membrane. A large patchy interruption of the sarcolemma was found in 17 cases, small interruption in 12, and a combination of large and small patchy discontinuity in 7. Small gaps around the fiber like a rosary were found in 15 cases. The frequency of these abnormalities ranged cases from: all fibers in 5 cases, frequent in 8, occasional in 5, and rare in 4. Five cases had total absence of immunofluorescence. These results suggest that the dystrophin expression is abnormal in this group of children and that this type of abnormalities can not be differentiated from early Becker muscular dystrophy nor childhood autosomal recessive muscular dystrophy through immunohystochemistry alone.

Becker muscular dystrophy or spinal muscular atrophy?—Dystrophin studies resolve conflicting results of electromyography and muscle biopsy

1991 ◽  
Vol 1 (3) ◽  
pp. 195-200 ◽  
Author(s):  
Thomas D. McDonald ◽  
Rossella Medori ◽  
David S. Younger ◽  
Hai W. Chang ◽  
Carlo Minetti ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Spinal Muscular Atrophy ◽  
Muscle Biopsy ◽  
Muscular Atrophy ◽  
Becker Muscular Dystrophy

scholarly journals Clinicopathologic and molecular profiles of Duchenne and Becker muscular dystrophy

2019 ◽  
Vol 59 (5) ◽  
pp. 257-64
Author(s):  
Ery Kus Dwianingsih ◽  
Meydita Fuzia Putri Insani ◽  
Linda Pratiwi ◽  
Irianiwati Widodo ◽  
Rusdy Ghazali Malueka
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Clinical Manifestations ◽  
Becker Muscular Dystrophy ◽  
High Serum ◽  
Molecular Profile ◽  
Molecular Profiles ◽  
Weak Expression ◽  
Dmd Gene ◽  
Histopathological Grading

Background Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic X-linked recessive diseases caused by mutations in the dystrophin (DMD) gene. To our knowledge, molecular analysis to differentiate between DMD and BMD has never been performed in Indonesia. Objective To elaborate the clinicopathologic and molecular profiles of DMD/BMD patients in Yogyakarta, Indonesia. Methods Eighteen muscle biopsy specimens of patients clinically suspected to have DMD/BMD were collected. Possible associations of clinical manifestations, histopathological grading, and immunohistochemistry (IHC) results were analyzed. Polymerase chain reaction (PCR) was performed to identify mutations in exon 52. Results. Positive Gower’s sign and high serum creatine kinase (CK) were observed in most patients. The IHC of dystrophin in two female patients suggested that they were manifesting carriers. Of the 16 male patients, 12 showed negative IHC staining, indicating DMD, while 4 patients demonstrated weak expression of dystrophin, indicating BMD. There was a significant association between high CK level and IHC results (P=0.005), indicating higher CK level in DMD patients. Histopathological grading of muscle biopsy was significantly associated with diagnosis of DMD/BMD using IHC (P=0.01), showing more severe tissue damage in DMD patients. None of the subjects had the single exon 52 deletion. Conclusion This is the first report of a clinicopathologic and molecular profile of DMD/BMD in an Indonesian population. Serum CK level and histopathological grading of muscle biopsy are useful in distinguishing DMD from BMD in settings where an IHC assay is not available.

P2.8 Congenital muscular dystrophy with intracytoplasmatic aggregates on muscle biopsy caused by mutation on LMNA gene

2011 ◽  
Vol 21 (9-10) ◽  
pp. 663
Author(s):  
L.M. Pasqualin ◽  
E. Zanoteli ◽  
M.A.V. Albuquerque ◽  
C.A. Martins ◽  
O.L.A. Neto ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Muscle Biopsy ◽  
Congenital Muscular Dystrophy ◽  
Lmna Gene

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 ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Ventilatory Support ◽  
Congenital Muscular Dystrophy ◽  
Molecular Study ◽  
Collagen Vi ◽  
Bethlem Myopathy ◽  
Recessive Form ◽  
Ullrich Congenital Muscular Dystrophy

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.

Exome Sequencing Reveals Diagnosis of LAMA2-Muscular Dystrophy and Possibility of Coexisting Bethlem Myopathy in a Neonate

2021 ◽  
Author(s):  
Shruti Bajaj ◽  
Piyush Shah ◽  
Venu Seenappa ◽  
Jayashree Kalyankar ◽  
Divyata Hingwala
Keyword(s):  
Muscular Dystrophy ◽  
Exome Sequencing ◽  
Autosomal Recessive ◽  
Age Of Onset ◽  
Fatty Infiltration ◽  
Congenital Muscular Dystrophy ◽  
Carrier State ◽  
Muscle Disease ◽  
Bethlem Myopathy ◽  
Musculoskeletal Mri

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.

Does a normal dystrophin staining in muscle biopsy rule out the molecular diagnosis of Duchenne/Becker muscular dystrophy?

2017 ◽  
Vol 21 ◽  
pp. e235
Author(s):  
Mira Ginzberg ◽  
Tally Lerman-Sagie ◽  
Menachem Sadeh ◽  
Ron Dabby ◽  
Esther Leshinsky-Silver ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Molecular Diagnosis ◽  
Muscle Biopsy ◽  
Becker Muscular Dystrophy ◽  
Rule Out
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