PMID: 9660506Jul 11, 1998Paper

Congenital muscular dystrophy with complete laminin-alpha2-deficiency, cortical dysplasia, and cerebral white-matter changes in children

Journal of Child Neurology
C Y TsaoM Luquette

Abstract

Congenital muscular dystrophy consists of Fukuyama congenital muscular dystrophy, Walker-Warburg syndrome, muscle-eye-brain disease, and occidental congenital muscular dystrophy, which is further divided into laminin-alpha2-positive and laminin-alpha2-negative subgroups. These forms of congenital muscular dystrophy are frequently associated with abnormal white-matter changes, whereas the Fukuyama form, Walker-Warburg syndrome, and muscle-eye-brain disease are also frequently found to have polymicrogyria. We now report two infants with complete laminin-alpha2-deficiency who have not only abnormal cerebral white-matter lesions, but also bioccipital polymicrogyria. There are significant similarities in the clinical and cerebral manifestations among the various types of congenital muscular dystrophy. The diagnosis of the Fukuyama form, laminin-alpha2-deficiency, Walker-Warburg syndrome, and muscle-eye-brain disease cannot always be established on radiological studies alone.

References

Jul 1, 1984·Journal of Neuropathology and Experimental Neurology·K TakadaJ Tanaka
Apr 1, 1994·Matrix Biology : Journal of the International Society for Matrix Biology·R E BurgesonJ Sanes
Oct 1, 1993·Journal of the Neurological Sciences·Y K HayashiK Arahata
Nov 1, 1993·Nature Genetics·T TodaM ] Suzuki M [corrected to Sakai
Sep 1, 1995·Pediatric Neurology·E ParanoW B Dobyns
Mar 1, 1996·Brain & Development·Y YamashitaI Nonaka
Nov 1, 1996·Clinical Neurology and Neurosurgery·Q H LeytenH J ter Laak
Feb 1, 1997·Annals of Neurology·M HaltiaP Santavuori

❮ Previous
Next ❯

Citations

Mar 8, 2005·Pediatric Radiology·Claudia C LeiteUmbertina C Reed
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
Feb 10, 2000·Arquivos de neuro-psiquiatria·M M VasconcelosM M Vieira
Nov 17, 2010·Journal of Child Neurology·Ching H WangUNKNOWN International Standard of Care Committee for Congenital Muscular Dystrophy
Mar 21, 2009·Clinical Oral Implants Research·Nabeel AlsabeehaMichael V Swain
Jan 12, 2005·Clinical Oral Implants Research·Yi-Hao HuangUlf M E Wikesjö
Dec 11, 1999·Current Opinion in Neurology·C A Sewry, F Muntoni

❮ 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.