PMID: 8596321Mar 2, 1996Paper

Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy

Lancet
Caroline SewryF Muntoni

Abstract

The alpha2 chain of laminin-2 (merosin), encoded by a gene on chromosome 6q22, is deficient in about half the cases of congenital muscular dystrophy. Diagnosis of this condition has relied on immunocytochemical analysis of the alpha2 chain in muscle biopsy specimens. We have observed that normal skin also expresses laminin alpha2 in the basement membrane at the junction of the dermis and epidermis. Here we have investigated laminin alpha2 deficiency in skin biopsy specimens from two patients with congenital muscular dystrophy. Two patients with severe congenital muscular dystrophy gave informed consent to a skin biopsy. The girl was aged 10 and the boy was aged 7. The specimens were labelled with a commercially available mouse monoclonal antibody and a rat monoclonal antibody (4H8-2), which recognise an 80 and a 380 kDa fragment of the alpha2 chain, respectively. The antibodies were visualised by standard methods. A muscle biopsy specimen was available for each case, and was processed with the skin biopsy samples (from the girl a few months previously, from the boy at age 14 days). Skin biopsies were done on four controls with normal expression of laminin alpha2 on their skeletal muscle fibres. FINDINGS We did not detect lamini...Continue Reading

References

Jul 1, 1995·Neuromuscular Disorders : NMD·C A SewryV Dubowitz
Mar 4, 1995·Lancet·F MuntoniV Dubowitz
Apr 1, 1994·Matrix Biology : Journal of the International Society for Matrix Biology·R E BurgesonJ Sanes
Nov 1, 1993·Nature Genetics·T TodaM ] Suzuki M [corrected to Sakai
Jan 1, 1993·Kidney International·E Engvall
Nov 1, 1995·Journal of Child Neurology·Z ShorerV Dubowitz

❮ Previous
Next ❯

Citations

Jul 24, 2010·Acta Neuropathologica·Caroline A Sewry
Oct 23, 1997·Journal of the Neurological Sciences·N TachiK Sasaki
Jun 19, 2001·Neuromuscular Disorders : NMD·J PhilpotF Muntoni
Dec 1, 1996·Neuromuscular Disorders : NMD·U M Wewer, E Engvall
Dec 1, 2004·Journal of Clinical Neuromuscular Disease·Masanori Igarashi
Jun 18, 2002·Journal of Cellular and Molecular Medicine·Emilia Manole, Marilena Alexianu
Dec 14, 2006·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Jerry R MendellPaul T Martin
Apr 17, 1998·Brain & Development·T Voit
Aug 30, 2008·Brain & Development·Jong-Hee ChaeSung Hye Park
Sep 8, 2004·Neuromuscular Disorders : NMD·Francesco Muntoni, Thomas Voit
Nov 22, 2012·Journal of Cellular Physiology·Camilla PellegriniNadir M Maraldi
Mar 9, 2010·Neuromuscular Disorders : NMD·Fatemeh GeranmayehFrancesco Muntoni
Feb 19, 2000·Microscopy Research and Technique·Y Miyagoe-SuzukiS Takeda
Oct 31, 2000·Microscopy Research and Technique·K A McGowan, M P Marinkovich
May 18, 2013·Journal of Child Neurology·Biswaroop ChakrabartyChitra Sarkar
Apr 9, 2013·Journal of Child Neurology·Biswaroop ChakrabartyChitra Sarkar
Feb 19, 2000·Microscopy Research and Technique·C A Sewry
Nov 14, 2017·Journal of Child Neurology·Biswaroop ChakrabartyChitra Sarkar
Aug 28, 2020·Frontiers in Molecular Neuroscience·Anna SarkozyFrancesco Muntoni
Sep 11, 2002·European Journal of Ophthalmology·A ZervosE I Traboulsi
Sep 2, 2015·Journal of Neuromuscular Diseases·Isabelle NelsonGisèle Bonne
Aug 26, 1999·Journal of Neurochemistry·M T Moral-NaranjoC J Vidal

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.