Concepedia

Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments

Francesco Muntoni, Gualtiero Catani, Anna Mateddu, Marco Rimoldi, Terenzio Congiu, Gavino Faa, Maria Giovanna Marrosu, Carlo Cianchetti, Maurizio Porcu

Neuromuscular Disorders · 1994 · 58 citations · 31 references

Concepts

MedicineGeneticsPathologyHuman GeneticsMedical GeneticsNeuromuscular DisordersDilated Cardiomyopathy GeneticsGenetic DisordersInherited CardiomyopathiesMuscular DystrophyDesmin ExpressionDesmin-related MyopathyDisease-associated Intermediate Filament MutationsFamilial Cardiomyopathy GeneticsFamilial Dilated CardiomyopathyMyofibrillar MyopathySyndromic Cardiomyopathy

References

31

Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

Eric P. Hoffman, Corlee J. Bertelson, Anthony P. Monaco et al. · Cell · 1987 · 2.4K citations

Life Sciences, Genetics, Molecular Genetics +11

Intermediate filaments as mechanical integrators of cellular space

Elias Lazarides · Nature · 1980 · 2K citations

Life Sciences, Biophysics, Cell Biology +16

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

Jeffrey S. Chamberlain, Richard A. Gibbs, Joel E. Rainer et al. · Nucleic Acids Research · 1988 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

Alan H. Beggs, FrederickM. Boyce, LouisM. Kunkel · Human Genetics · 1990 · 695 citations

Life Sciences, Genetics, Molecular Genetics +14

Muscle Biopsy: A Practical Approach

Anthony J. Bourne · Pathology · 1986 · 581 citations

Medicine, Pathology, Histology +10