BIOBANK OF SKELETAL MUSCLE, PERIPHERAL NERVE, DNA AND CELL CULTURE
Supervisor: Prof. M. Moggio
Co-Head: Dr. M. Sciacco
Tel: 02-55036504
Fax: 02-55033827
E-mail: maurizio.moggio @ unimi.it
The ” Biobank of skeletal muscle , peripheral nerve , DNA and cell culture ” is part of the UOD and Rare Neuromuscular Diseases and was set up with the aim of collecting and storing biological samples , making them available for research purposes and for possible both for diagnostic purposes when new scientific knowledge allow a nosographic that at the time of storage was not possible .
Since 1999 is partly funded by the Telethon Foundation ( Project GTB12001 From 2013 for a period of 5 years – Telethon Network of Genetic Biobanks ( http://www.biobanknetwork.org/ ) ) .
Since 2002 he has become a partner of the project EuroBioBank ( http://www.eurobiobank.org/ ), funded by the European Community , coordinated by Eurordis first (European Organization for Rare Diseases ) and currently Telethon .
From 2002 to July 2005, the Bank has a quality management system with ISO 9001 certification issued by Det Norske Veritas.
Since July 2005, the Bank’s quality system is certified by BVQI .
Since July 2013, joined the European Research Infrastructure for Biobanking and Biomolecular Resources Research Infrastructure ( BBMRI ) .
The Biobank and ‘ managed in collaboration with the Unit of Neurology , with Prof. N.Bresolin GPComi and Professor of the Laboratory of Biochemistry and Genetics, Department of Neurological Sciences, ‘ University of Milan, Fondazione IRCCS Cà Granda Hospital Maggiore Policlinico of Milan.
The Biobank contains a considerable number of biological samples from patients with different rare neuromuscular diseases , which are analyzed with both diagnostic and research purposes . Currently stored in the Biobank are over 10,000 biopsies of skeletal muscle , approximately 4232 inclusions in resin for Electron Microscopy and 438 samples of peripheral nerve for morphological studies . They are also available DNA samples and cell cultures.
Biological Samples Stored according to pathology:
Tabella dei campioni biologici conservati nella Biobanca
Name of Disease | ICD10 Identifier |
ICD10 Name |
MIM Number |
ORPHA Number |
N. samples Muscle tissue | N. samples DNA | N. samples Myoblasts | N. samples Fibroblasts |
Duchenne dystrophy, DMD | G71.0 | Muscular Dystrophy | 310200 | 98896 | 182 | 214 | 68 | 41 |
Becker dystrophy, BMD | G71.0 | Muscular Dystrophy | 300376 | 98895 | 84 | 225 | 44 | 50 |
DMD/BMD carrier | G71.0 | Muscular Dystrophy | 310200 | 262 | 32 | 29 | 17 | 20 |
Relatives of distrophinopathic pts | Muscular Dystrophy | 0 | 381 | 0 | 0 | |||
LGMD2A, calpainopathy | G71.0 | Muscular Dystrophy | 253600 | 267 | 0 | 0 | 2 | 2 |
LGMD2B, dysferlinopathy | G71.0 | Muscular Dystrophy | 253601 | 268 | 14 | 46 | 2 | 2 |
LGMD2C, gamma-sarcoglycanopathy | G71.0 | Muscular Dystrophy | 253700 | 353 | 14 | 69 | 2 | 2 |
LGMD2D, alpha-sarcoglycanopathy | G71.0 | Muscular Dystrophy | 608099 | 62 | 4 | 4 | 1 | 1 |
LGMD2E, beta-sarcoglycanopathy | G71.0 | Muscular Dystrophy | 604286 | 119 | 6 | 12 | 3 | 3 |
LGMD2F, delta-sarcoglycanopathy | G71.0 | Muscular Dystrophy | 601287 | 219 | 6 | 9 | 2 | 2 |
LGMD2I, FKRP | G71.0 | Muscular Dystrophy | 607155 | 34515 | 2 | 0 | 1 | 1 |
LGMD1B, LMNA | G71.0 | Muscular Dystrophy | 159001 | 264 | 4 | 8 | 2 | 2 |
LGMD1C, caveolinopathy | G71.0 | Muscular Dystrophy | 607801 | 265 | 37 | 63 | 4 | 4 |
Other LGMD | G71.0 | Muscular Dystrophy | 58 | 54 | 1 | 1 | ||
Facio-scapulo-humeral, FSHD1 | G71.0 | Muscular Dystrophy | 158900 | 269 | 59 | 6 | 11 | 9 |
Merosinopathy, LAMA2 | G71.2 | Congenital Myopathies | 607855 | 258 | 4 | 1 | 0 | 0 |
Congenital dystrophies | G71.2 | Congenital Myopathies | 606612 | 97242 | 26 | 17 | 9 | 9 |
Myotonic dystrophy, Steinert, DM1 | G71.1 | Myotonic Disorders | 160900 | 273 | 56 | 73 | 7 | 6 |
Thomsen Becker disease CLCN1 channel | G71.1 | Myotonic Disorders | 160800 | 614 | 2 | 2 | 0 | 0 |
Selenoproteine (SEPN1) | G71.2 | Congenital Myopathies | 606210 | 209193 | 0 | 3 | 0 | 0 |
HypoKaliemic Periodic paralysis | G72.3 | Periodic paralysis | 170400 | 681 | 6 | 0 | 0 | 0 |
Oculo-pharyngeal | G71.0 | Muscular Dystrophy | 164300 | 270 | 13 | 4 | 5 | 4 |
Nemaline myopathy | G71.2 | Congenital Myopathies | 256030 | 607 | 3 | 1 | 2 | 2 |
Centralcore myopathy | G71.2 | Congenital Myopathies | 117000 | 597 | 7 | 1 | 3 | 3 |
Minicore myopathy | G71.2 | Congenital Myopathies | 255320 | 598 | 4 | 2 | 3 | 3 |
Centronuclear myopathy | G71.2 | Congenital Myopathies | 602378 | 595 | 2 | 1 | 0 | 0 |
Myotubular myopathy, MTMX | G71.2 | Congenital Myopathies | 310400 | 596 | 5 | 0 | 1 | 1 |
Fiber type disproportion | G71.2 | Congenital Myopathies | 255310 | 2020 | 5 | 2 | 4 | 5 |
Tubular aggregates | G71.2 | Congenital Myopathies | 160565 | 2593 | 13 | 1 | 1 | 1 |
Morbo di Basedow | E05.5 | Hypethyroidism | 181399 | 2 | 0 | 0 | 0 | |
Myofibrillar myopathies | G72.8 | Congenital Myopathies | 601419 | 593 | 10 | 2 | 4 | 5 |
Glycogenosis type II, including Pompe | E74.0 | Glycogen Storage Disease | 232300 | 365 | 109 | 11 | 18 | 28 |
Glycogenosis type V, Mc Ardle | E74.0 | Glycogen Storage Disease | 232600 | 368 | 19 | 0 | 11 | 11 |
Glycogenosis type III | E74.0 | Glycogen Storage Disease | 232400 | 366 | 9 | 45 | 20 | 20 |
Glycogenosis type VII | E74.0 | Glycogen Storage Disease | 232800 | 371 | 1 | 0 | 5 | 5 |
Glycogenosis type XIII | E74.0 | Glycogen Storage Disease | 131370 | 99849 | 1 | 0 | 0 | 0 |
MAD deficiency | E71.3 | 102770 | 26791 | 37 | 8 | 3 | 3 | |
MtDNA macrodeletions | Mitochondrial Myopathy | 35697 | 88 | 59 | 25 | 24 | ||
MtDNA multiple deletions | Mitochondrial Myopathy | 35697 | 82 | 130 | 40 | 30 | ||
LEBER | H47 | Mitochondrial Myopathy | 535000 | 104 | 4 | 37 | 0 | 0 |
MERRF | G40.3 | Mitochondrial Myopathy not elsewhere classified | 545000 | 551 | 26 | 39 | 6 | 6 |
MELAS | G71.3 | Mitochondrial Myopathy not elsewhere classified | 540000 | 550 | 24 | 38 | 5 | 5 |
NARP | G31.8 | Mitochondrial Myopathy | 551500 | 644 | 2 | 3 | 0 | 0 |
PEO 3243 point mutations | G71.3 | Mitochondrial Myopathy not elsewhere classified | 540000 | 550 | 9 | 9 | 1 | 1 |
Other mtDNA point mutations | Mitochondrial Myopathy | 540000 | 35697 | 23 | 45 | 4 | 12 | |
MtDNA depletion | Q99.8 | Mitochondrial Myopathy | 609560 | 35698 | 9 | 15 | 0 | 0 |
Other mitochondrial disorders | G71.3 | Mitochondrial Myopathy | 540000 | 35698 | 306 | 248 | 54 | 35 |
Lipid storage myopathy | G73 | Lipid storage disorder unspecified | 255100 | 206953 | 51 | 28 | 2 | 2 |
LCAD deficiency | E71.3 | Mitochondrial Myopathy | 201460 | 99900 | 6 | 0 | 0 | 0 |
MCAD deficiency | E71.3 | Lipid storage disorder unspecified | 201450 | 42 | 1 | 0 | 0 | 0 |
CPT deficiency | E71.3 | Disorders of fatty-acid metabolism | 255110 | 157 | 16 | 36 | 1 | 1 |
Inflammatory Myopathies | M60.8 | Inflammatory Myopathies | 160750 | 48918 | 739 | 47 | 109 | 82 |
IBM | M60.8 | Inflammatory Myopathies not elsewhere classified | 147421 | 611 | 57 | 18 | 15 | 14 |
Critical Illness Myopathy | 12 | 0 | 0 | 0 | ||||
Myasthenia Gravis | G70.0 | Myasthenia Gravis | 254200 | 589 | 17 | 0 | 0 | 0 |
Malignant hyperthermia | T88.3 | Malignant hyperthermia | 145600 | 423 | 12 | 192 | 1 | 0 |
Corea di Huntington | G10 | Huntington’s disease | 143100 | 399 | 2 | 0 | 0 | 0 |
Essential hyperckemia | 138 | 62 | 39 | 32 | ||||
Spinal muscular atrophy, SMA-1,2,3 | G12.0 | Spinal muscular atrophy and related syndroms | 253550 | 70 | 55 | 54 | 3 | 13 |
Spinal bulbar muscular atrophy, Kennedy | G12.2 | Other spinal muscular atrophy and related syndroms | 313200 | 481 | 3 | 8 | 0 | 0 |
Amyotrophic lateral sclerosis | G12.2 | Motor neuron disease | 105400 | 803 | 115 | 101 | 21 | 28 |
Mild non specific myopathic signs | 1250 | 944 | 192 | 192 | ||||
Mild non specific neurogenic signs | 783 | 24 | 32 | 33 | ||||
Normal muscle biopsy | Controls | 1223 | 56 | 175 | 153 | |||
Dilatative idiopathic cardiomyopathy | I42.0 | Dilated cardiomyopathy | 115200 | 83618 | 5 | 0 | 0 | 0 |
Secondary dilatative cardiomyopathy | I42.0 | Dilated cardiomyopathy | 217629 | 3 | 0 | 0 | 0 | |
Myocarditis | Cardiomyopathy | 3 | 0 | 0 | 0 | |||
Ischemic cardiopathy | Cardiopathy | 4 | 0 | 0 | 0 | |||
Degenerative neuropathy (hereditary and acquired) | G60.8 | Degenerative neuropathies | 162400 | 36386 | 504 | 1 | 1 | 1 |
Inflammatory neuropathy | G72.4 | Inflammatory neuropathies | 60 | 2 | 0 | 0 | ||
Normal nerve biopsy | Controls | 25 | 0 | 0 | 0 | |||
Spastic Paraparesis (Paraplegin. Def.) | G11.4 | Hereditary spastic paraplegia | 602783 | 685 | 1 | 7 | 1 | 1 |
S. of Down | Q90 | Genetic diseases | 190685 | 870 | 1 | 186 | 0 | 26 |